Format

Send to:

Choose Destination

pten hamartoma tumor syndrome(PHTS)

MedGen UID:
368366
Concept ID:
C1959582
Neoplastic Process
Synonyms: PHTS; PTEN hamartoma tumor syndrome; PTEN Hamartomatous Tumour Syndrome
SNOMED CT: PTEN hamartoma tumor syndrome (722859001)
Modes of inheritance:
autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PTEN (10q23.31)
Related gene: AKT1
 
Monarch Initiative: MONDO:0017623
OMIM®: 601728
Orphanet: ORPHA306498

Disease characteristics

Excerpted from the GeneReview: PTEN Hamartoma Tumor Syndrome
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GeneReviews]
Authors:
Lamis Yehia  |  Charis Eng   view full author information

Clinical features

From HPO
carcinoma
MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
thyroid adenoma (disease)
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.
fibroadenoma of the breast
MedGen UID:
64231
Concept ID:
C0178421
Neoplastic Process
A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.
transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.
subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
hamartomatous polyposis
MedGen UID:
474435
Concept ID:
C3272802
Disease or Syndrome
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
ovarian carcinoma
MedGen UID:
1648335
Concept ID:
C4721610
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods.
varicocele
MedGen UID:
22619
Concept ID:
C0042341
Disease or Syndrome
A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.
ovarian carcinoma
MedGen UID:
1648335
Concept ID:
C4721610
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
palmoplantar hyperkeratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
abnormality of the vasculature
MedGen UID:
66032
Concept ID:
C0241657
Finding
An abnormality of the vasculature.
colonic diverticula
MedGen UID:
3878
Concept ID:
C0012819
Disease or Syndrome
The presence of multiple diverticula of the colon.
hamartomatous polyposis
MedGen UID:
474435
Concept ID:
C3272802
Disease or Syndrome
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
Partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders.
meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
IQ 50-70.
seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
lhermitte-duclos disease
MedGen UID:
140251
Concept ID:
C0391826
Neoplastic Process
A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
hemimegalencephaly
MedGen UID:
140910
Concept ID:
C0431391
Finding
Enlargement of all or parts of one cerebral hemisphere.
global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
decreased antibody level in blood
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
progressive macrocephaly
MedGen UID:
395368
Concept ID:
C1859896
Finding
The progressive development of an abnormally large skull.
pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
decreased antibody level in blood
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
decreased antibody level in blood
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
furrowed tongue
MedGen UID:
21583
Concept ID:
C0040412
Disease or Syndrome
The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE.
hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
high palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
progressive macrocephaly
MedGen UID:
395368
Concept ID:
C1859896
Finding
The progressive development of an abnormally large skull.
acrokeratosis
MedGen UID:
450988
Concept ID:
C0001202
Disease or Syndrome
Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
palmoplantar hyperkeratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.
subcutaneous lipoma
MedGen UID:
234674
Concept ID:
C1403035
Neoplastic Process
The presence of subcutaneous lipoma.
goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
thyroid adenoma (disease)
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.
gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
fibroadenoma of the breast
MedGen UID:
64231
Concept ID:
C0178421
Neoplastic Process
A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.
breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.
angioid streaks
MedGen UID:
1541
Concept ID:
C0002982
Disease or Syndrome
Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
myopia (disease)
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
cataract (disease)
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
decreased antibody level in blood
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.

Professional guidelines

PubMed

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R; National comprehensive cancer network.
J Natl Compr Canc Netw 2014 Sep;12(9):1326-38. doi: 10.6004/jnccn.2014.0127. PMID: 25190698
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article
Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317
Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, Smith RA, Warner E, Yaffe M, Andrews KS, Russell CA; American Cancer Society Breast Cancer Advisory Group.
CA Cancer J Clin 2007 Mar-Apr;57(2):75-89. doi: 10.3322/canjclin.57.2.75. PMID: 17392385

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Suggested Reading

Recent clinical studies

Etiology

Plamper M, Born M, Gohlke B, Schreiner F, Schulte S, Splittstößer V, Woelfle J
Cells 2020 Jul 10;9(7) doi: 10.3390/cells9071668. PMID: 32664367Free PMC Article
Martin H, Bessis D, Bourrat E, Mazereeuw-Hautier J, Morice-Picard F, Balguerie X, Chiaverini C; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.
Pediatr Dermatol 2020 Sep;37(5):839-843. Epub 2020 Jul 13 doi: 10.1111/pde.14265. PMID: 32657433
Shiohama T, Levman J, Vasung L, Takahashi E
Am J Med Genet A 2020 May;182(5):1117-1129. Epub 2020 Mar 12 doi: 10.1002/ajmg.a.61532. PMID: 32162846
Plamper M, Schreiner F, Gohlke B, Kionke J, Korsch E, Kirkpatrick J, Born M, Aretz S, Woelfle J
Eur J Pediatr 2018 Mar;177(3):429-435. Epub 2017 Dec 22 doi: 10.1007/s00431-017-3067-9. PMID: 29273943
Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L
Eur J Med Genet 2017 May;60(5):261-264. Epub 2017 Mar 7 doi: 10.1016/j.ejmg.2017.03.002. PMID: 28286253

Diagnosis

Macken WL, Tischkowitz M, Lachlan KL
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):591-610. Epub 2019 Oct 14 doi: 10.1002/ajmg.c.31743. PMID: 31609537
Habeshian K, Huppmann A, Ferreira C, Kirkorian AY
Pediatr Dermatol 2018 Jul;35(4):e253-e254. Epub 2018 May 28 doi: 10.1111/pde.13535. PMID: 29806868
Plamper M, Schreiner F, Gohlke B, Kionke J, Korsch E, Kirkpatrick J, Born M, Aretz S, Woelfle J
Eur J Pediatr 2018 Mar;177(3):429-435. Epub 2017 Dec 22 doi: 10.1007/s00431-017-3067-9. PMID: 29273943
Nosé V
Head Neck Pathol 2016 Jun;10(2):131-8. Epub 2016 Mar 14 doi: 10.1007/s12105-016-0708-7. PMID: 26975628Free PMC Article
Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA
Am J Clin Pathol 2015 Aug;144(2):322-8. doi: 10.1309/AJCP84INGJUVTBME. PMID: 26185318

Therapy

Leipert J, Kässner F, Schuster S, Händel N, Körner A, Kiess W, Garten A
Nutr Cancer 2016;68(2):342-9. Epub 2016 Mar 4 doi: 10.1080/01635581.2016.1145244. PMID: 26943752
Schmid GL, Kässner F, Uhlig HH, Körner A, Kratzsch J, Händel N, Zepp FP, Kowalzik F, Laner A, Starke S, Wilhelm FK, Schuster S, Viehweger A, Hirsch W, Kiess W, Garten A
Pediatr Res 2014 Apr;75(4):527-34. Epub 2013 Dec 23 doi: 10.1038/pr.2013.246. PMID: 24366516
Marsh DJ, Trahair TN, Martin JL, Chee WY, Walker J, Kirk EP, Baxter RC, Marshall GM
Nat Clin Pract Oncol 2008 Jun;5(6):357-61. Epub 2008 Apr 22 doi: 10.1038/ncponc1112. PMID: 18431376

Prognosis

Am J Med Genet A 2020 Jan;182(1):7-8. doi: 10.1002/ajmg.a.61220. PMID: 31825175
Plamper M, Schreiner F, Gohlke B, Kionke J, Korsch E, Kirkpatrick J, Born M, Aretz S, Woelfle J
Eur J Pediatr 2018 Mar;177(3):429-435. Epub 2017 Dec 22 doi: 10.1007/s00431-017-3067-9. PMID: 29273943
Byrd V, Getz T, Padmanabhan R, Arora H, Eng C
Endocr Relat Cancer 2018 Mar;25(3):233-243. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0442. PMID: 29233840Free PMC Article
Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH
Am J Med Genet A 2012 Jul;158A(7):1719-23. Epub 2012 May 24 doi: 10.1002/ajmg.a.35406. PMID: 22628360

Clinical prediction guides

Shiohama T, Levman J, Vasung L, Takahashi E
Am J Med Genet A 2020 May;182(5):1117-1129. Epub 2020 Mar 12 doi: 10.1002/ajmg.a.61532. PMID: 32162846
Am J Med Genet A 2020 Jan;182(1):7-8. doi: 10.1002/ajmg.a.61220. PMID: 31825175
Byrd V, Getz T, Padmanabhan R, Arora H, Eng C
Endocr Relat Cancer 2018 Mar;25(3):233-243. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0442. PMID: 29233840Free PMC Article
Balci TB, Davila J, Lewis D, Boafo A, Sell E, Richer J, Nikkel SM, Armour CM, Tomiak E, Lines MA, Sawyer SL
Am J Med Genet B Neuropsychiatr Genet 2018 Jan;177(1):101-109. Epub 2017 Nov 20 doi: 10.1002/ajmg.b.32610. PMID: 29152901
Venturini G, Moulin AP, Deprez M, Uffer S, Bottani A, Zografos L, Rivolta C
Ophthalmology 2012 Apr;119(4):857-64. Epub 2012 Jan 26 doi: 10.1016/j.ophtha.2011.09.057. PMID: 22281088

Recent systematic reviews

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center