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Cowden syndrome 5(CWS5)

MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
Synonym: CWS5
 
Gene (location): PIK3CA (3q26.32)
 
Monarch Initiative: MONDO:0014047
OMIM®: 615108

Disease characteristics

Excerpted from the GeneReview: PIK3CA-Related Overgrowth Spectrum
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency. [from GeneReviews]
Authors:
Ghayda Mirzaa  |  John M Graham  |  Kim Keppler-Noreuil   view full author information

Additional description

From MedlinePlus Genetics
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.

Some people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.

The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.

  https://medlineplus.gov/genetics/condition/cowden-syndrome

Clinical features

From HPO
Thyroid adenoma
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
The presence of a adenoma of the thyroid gland.
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
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 cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Palmoplantar keratosis
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 cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Colonic diverticula
MedGen UID:
3878
Concept ID:
C0012819
Disease or Syndrome
The presence of multiple diverticula of the colon.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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).
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.
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.
Thyroiditis
MedGen UID:
21548
Concept ID:
C0040147
Disease or Syndrome
Inflammation of the thyroid gland.
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
Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
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).
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
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.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.
Angioid streaks
MedGen UID:
1541
Concept ID:
C0002982
Disease or Syndrome
Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).
Myopia
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
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines

PubMed

Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group, Mensenkamp AR, Vos JR
Eur J Med Genet 2022 Dec;65(12):104632. Epub 2022 Oct 18 doi: 10.1016/j.ejmg.2022.104632. PMID: 36270489
Ueki A, Hirasawa A
Int J Mol Sci 2020 Dec 14;21(24) doi: 10.3390/ijms21249504. PMID: 33327492Free PMC Article
Mighell TL, Evans-Dutson S, O'Roak BJ
Am J Hum Genet 2018 May 3;102(5):943-955. Epub 2018 Apr 26 doi: 10.1016/j.ajhg.2018.03.018. PMID: 29706350Free PMC Article

Recent clinical studies

Etiology

Haeuser E, Serfes AL, Cork MA, Yang M, Abbastabar H, Abhilash ES, Adabi M, Adebayo OM, Adekanmbi V, Adeyinka DA, Afzal S, Ahinkorah BO, Ahmadi K, Ahmed MB, Akalu Y, Akinyemi RO, Akunna CJ, Alahdab F, Alanezi FM, Alanzi TM, Alene KA, Alhassan RK, Alipour V, Almasi-Hashiani A, Alvis-Guzman N, Ameyaw EK, Amini S, Amugsi DA, Ancuceanu R, Anvari D, Appiah SCY, Arabloo J, Aremu O, Asemahagn MA, Jafarabadi MA, Awedew AF, Quintanilla BPA, Ayanore MA, Aynalem YA, Azari S, Azene ZN, Darshan BB, Babalola TK, Baig AA, Banach M, Bärnighausen TW, Bell AW, Bhagavathula AS, Bhardwaj N, Bhardwaj P, Bhattacharyya K, Bijani A, Bitew ZW, Bohlouli S, Bolarinwa OA, Boloor A, Bozicevic I, Butt ZA, Cárdenas R, Carvalho F, Charan J, Chattu VK, Chowdhury MAK, Chu DT, Cowden RG, Dahlawi SMA, Damiani G, Darteh EKM, Darwesh AM, das Neves J, Weaver ND, De Leo D, De Neve JW, Deribe K, Deuba K, Dharmaratne S, Dianatinasab M, Diaz D, Didarloo A, Djalalinia S, Dorostkar F, Dubljanin E, Duko B, El Tantawi M, El-Jaafary SI, Eshrati B, Eskandarieh S, Eyawo O, Ezeonwumelu IJ, Ezzikouri S, Farzadfar F, Fattahi N, Fauk NK, Fernandes E, Filip I, Fischer F, Foigt NA, Foroutan M, Fukumoto T, Gad MM, Gaidhane AM, Gebregiorgis BG, Gebremedhin KB, Getacher L, Ghadiri K, Ghashghaee A, Golechha M, Gubari MIM, Gugnani HC, Guimarães RA, Haider MR, Haj-Mirzaian A, Hamidi S, Hashi A, Hassanipour S, Hassankhani H, Hayat K, Herteliu C, Ho HC, Holla R, Hosseini M, Hosseinzadeh M, Hwang BF, Ibitoye SE, Ilesanmi OS, Ilic IM, Ilic MD, Islam RM, Iwu CCD, Jakovljevic M, Jha RP, Ji JS, Johnson KB, Joseph N, Joshua V, Joukar F, Jozwiak JJ, Kalankesh LR, Kalhor R, Kamyari N, Kanchan T, Matin BK, Karimi SE, Kayode GA, Karyani AK, Keramati M, Khan EA, Khan G, Khan MN, Khatab K, Khubchandani J, Kim YJ, Kisa A, Kisa S, Kopec JA, Kosen S, Laxminarayana SLK, Koyanagi A, Krishan K, Defo BK, Kugbey N, Kulkarni V, Kumar M, Kumar N, Kusuma D, La Vecchia C, Lal DK, Landires I, Larson HJ, Lasrado S, Lee PH, Li S, Liu X, Maleki A, Malik P, Mansournia MA, Martins-Melo FR, Mendoza W, Menezes RG, Mengesha EW, Meretoja TJ, Mestrovic T, Mirica A, Moazen B, Mohamad O, Mohammad Y, Mohammadian-Hafshejani A, Mohammadpourhodki R, Mohammed S, Mohammed S, Mokdad AH, Moradi M, Moraga P, Mubarik S, Mulu GBB, Mwanri L, Nagarajan AJ, Naimzada MD, Naveed M, Nazari J, Ndejjo R, Negoi I, Ngalesoni FN, Nguefack-Tsague G, Ngunjiri JW, Nguyen CT, Nguyen HLT, Nnaji CA, Noubiap JJ, Nuñez-Samudio V, Nwatah VE, Oancea B, Odukoya OO, Olagunju AT, Olakunde BO, Olusanya BO, Olusanya JO, Bali AO, Onwujekwe OE, Orisakwe OE, Otstavnov N, Otstavnov SS, Owolabi MO, Mahesh PA, Padubidri JR, Pana A, Pandey A, Pandi-Perumal SR, Kan FP, Patton GC, Pawar S, Peprah EK, Postma MJ, Preotescu L, Syed ZQ, Rabiee N, Radfar A, Rafiei A, Rahim F, Rahimi-Movaghar V, Rahmani AM, Ramezanzadeh K, Rana J, Ranabhat CL, Rao SJ, Rawaf DL, Rawaf S, Rawassizadeh R, Regassa LD, Rezaei N, Rezapour A, Riaz MA, Ribeiro AI, Ross JM, Rubagotti E, Rumisha SF, Rwegerera GM, Moghaddam SS, Sagar R, Sahiledengle B, Sahu M, Salem MR, Kafil HS, Samy AM, Sartorius B, Sathian B, Seidu AA, Shaheen AA, Shaikh MA, Shamsizadeh M, Shiferaw WS, Shin JI, Shrestha R, Singh JA, Skryabin VY, Skryabina AA, Soltani S, Sufiyan MB, Tabuchi T, Tadesse EG, Taveira N, Tesfay FH, Thapar R, Tovani-Palone MR, Tsegaye GW, Umeokonkwo CD, Unnikrishnan B, Villafañe JH, Violante FS, Vo B, Vu GT, Wado YD, Waheed Y, Wamai RG, Wang Y, Ward P, Wickramasinghe ND, Wilson K, Yaya S, Yip P, Yonemoto N, Yu C, Zastrozhin MS, Zhang Y, Zhang ZJ, Hay SI, Dwyer-Lindgren L; Local Burden of Disease sub-Saharan Africa HIV Prevalence Collaborators
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Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C
PLoS Genet 2018 Apr;14(4):e1007352. Epub 2018 Apr 23 doi: 10.1371/journal.pgen.1007352. PMID: 29684080Free PMC Article
Ma H, Brosens LAA, Offerhaus GJA, Giardiello FM, de Leng WWJ, Montgomery EA
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Diagnosis

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Post KL, Belmadani M, Ganguly P, Meili F, Dingwall R, McDiarmid TA, Meyers WM, Herrington C, Young BP, Callaghan DB, Rogic S, Edwards M, Niciforovic A, Cau A, Rankin CH, O'Connor TP, Bamji SX, Loewen CJR, Allan DW, Pavlidis P, Haas K
Nat Commun 2020 Apr 29;11(1):2073. doi: 10.1038/s41467-020-15943-0. PMID: 32350270Free PMC Article
Stoffel EM
Gastroenterol Clin North Am 2016 Sep;45(3):509-27. doi: 10.1016/j.gtc.2016.04.008. PMID: 27546846
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Minerva Ginecol 2016 Oct;68(5):579-86. Epub 2016 Mar 1 PMID: 26930387
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article

Therapy

Wollina U, Schönlebe J
Acta Dermatovenerol Croat 2023 Aug;31(1):45-47. PMID: 37843092
Falsey AR, Sobieszczyk ME, Hirsch I, Sproule S, Robb ML, Corey L, Neuzil KM, Hahn W, Hunt J, Mulligan MJ, McEvoy C, DeJesus E, Hassman M, Little SJ, Pahud BA, Durbin A, Pickrell P, Daar ES, Bush L, Solis J, Carr QO, Oyedele T, Buchbinder S, Cowden J, Vargas SL, Guerreros Benavides A, Call R, Keefer MC, Kirkpatrick BD, Pullman J, Tong T, Brewinski Isaacs M, Benkeser D, Janes HE, Nason MC, Green JA, Kelly EJ, Maaske J, Mueller N, Shoemaker K, Takas T, Marshall RP, Pangalos MN, Villafana T, Gonzalez-Lopez A; AstraZeneca AZD1222 Clinical Study Group
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Rizzo JM, Segal RJ, Zeitouni NC
Photodiagnosis Photodyn Ther 2018 Mar;21:58-62. Epub 2017 Nov 2 doi: 10.1016/j.pdpdt.2017.10.028. PMID: 29102653
VanStraten AF, Ng YT
Pediatr Neurol 2012 Sep;47(3):153-61. doi: 10.1016/j.pediatrneurol.2012.05.001. PMID: 22883278
Alsanea O, Clark OH
Curr Opin Oncol 2001 Jan;13(1):44-51. doi: 10.1097/00001622-200101000-00009. PMID: 11148685

Prognosis

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
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J Obstet Gynaecol Res 2022 May;48(5):1076-1090. Epub 2022 Feb 28 doi: 10.1111/jog.15197. PMID: 35229413
Geister KA, Camper SA
Annu Rev Genomics Hum Genet 2015;16:199-227. Epub 2015 Apr 22 doi: 10.1146/annurev-genom-090314-045904. PMID: 25939055Free PMC Article
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Clinical prediction guides

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Falsey AR, Sobieszczyk ME, Hirsch I, Sproule S, Robb ML, Corey L, Neuzil KM, Hahn W, Hunt J, Mulligan MJ, McEvoy C, DeJesus E, Hassman M, Little SJ, Pahud BA, Durbin A, Pickrell P, Daar ES, Bush L, Solis J, Carr QO, Oyedele T, Buchbinder S, Cowden J, Vargas SL, Guerreros Benavides A, Call R, Keefer MC, Kirkpatrick BD, Pullman J, Tong T, Brewinski Isaacs M, Benkeser D, Janes HE, Nason MC, Green JA, Kelly EJ, Maaske J, Mueller N, Shoemaker K, Takas T, Marshall RP, Pangalos MN, Villafana T, Gonzalez-Lopez A; AstraZeneca AZD1222 Clinical Study Group
N Engl J Med 2021 Dec 16;385(25):2348-2360. Epub 2021 Sep 29 doi: 10.1056/NEJMoa2105290. PMID: 34587382Free PMC Article
Mighell TL, Evans-Dutson S, O'Roak BJ
Am J Hum Genet 2018 May 3;102(5):943-955. Epub 2018 Apr 26 doi: 10.1016/j.ajhg.2018.03.018. PMID: 29706350Free PMC Article
Geister KA, Camper SA
Annu Rev Genomics Hum Genet 2015;16:199-227. Epub 2015 Apr 22 doi: 10.1146/annurev-genom-090314-045904. PMID: 25939055Free PMC Article
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article

Recent systematic reviews

Jia RB, Wang YF, Jia RB
Eur Rev Med Pharmacol Sci 2023 Nov;27(21):10313-10321. doi: 10.26355/eurrev_202311_34306. PMID: 37975355
Kondajji AM, Evans A, Lum M, Kulinich D, Unterberger A, Ding K, Duong C, Patel K, Yang I
J Neurol Sci 2021 May 15;424:117428. Epub 2021 Mar 27 doi: 10.1016/j.jns.2021.117428. PMID: 33813160
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

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