U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cockayne syndrome type 2(CSB)

MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Synonyms: Cockayne syndrome type 2; Cockayne syndrome B; Cockayne Syndrome, Type II; ERCC6-Related Cockayne Syndrome
SNOMED CT: Cockayne syndrome type 2 (890434000); Early onset Cockayne syndrome (890434000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ERCC6 (10q11.23)
 
Monarch Initiative: MONDO:0019570
OMIM®: 133540
Orphanet: ORPHA90322

Disease characteristics

Excerpted from the GeneReview: Cockayne Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia). [from GeneReviews]
Authors:
Vincent Laugel   view full author information

Additional description

From OMIM
Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by Mallery et al., 1998). Cockayne syndrome A (CSA; 216400) is caused by mutation in the ERCC8 gene (609412) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene (Licht et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see 216400.  http://www.omim.org/entry/133540

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Ivory epiphyses of the phalanges of the hand
MedGen UID:
346631
Concept ID:
C1857651
Finding
Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Severe failure to thrive
MedGen UID:
343373
Concept ID:
C1855514
Finding
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Normal pressure hydrocephalus
MedGen UID:
42526
Concept ID:
C0020258
Disease or Syndrome
Normal-pressure hydrocephalus-1 (HYDNP1) is an autosomal dominant neurologic disorder characterized by the clinical triad of slowly progressive gait instability, urinary incontinence, and cognitive decline associated with ventricular enlargement on brain imaging with normal pressure of the cerebrospinal fluid (CSF). The onset of symptoms is usually in late adulthood; the symptoms are responsive to shunting. The disorder has been associated with recurrent respiratory infections and possible infertility issues, but the latter has not been confirmed (summary by Takahashi et al., 2011 and Morimoto et al., 2019).
Seizure
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.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Abnormal auditory evoked potentials
MedGen UID:
141758
Concept ID:
C0522216
Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Patchy demyelination of subcortical white matter
MedGen UID:
341813
Concept ID:
C1857638
Finding
Patchy loss of myelin from nerve fibers in the central nervous system.
Decreased nerve conduction velocity
MedGen UID:
347509
Concept ID:
C1857640
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
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.
Peripheral dysmyelination
MedGen UID:
871139
Concept ID:
C4025610
Finding
Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
Abnormal peripheral myelination
MedGen UID:
871174
Concept ID:
C4025648
Anatomical Abnormality
An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Loss of facial adipose tissue
MedGen UID:
325251
Concept ID:
C1837767
Finding
Loss of normal subcutaneous fat tissue in the face.
Square pelvis bone
MedGen UID:
337928
Concept ID:
C1849953
Anatomical Abnormality
An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
Subcortical white matter calcifications
MedGen UID:
338696
Concept ID:
C1851430
Finding
Cerebellar calcifications
MedGen UID:
338697
Concept ID:
C1851431
Finding
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Hypoplasia of teeth
MedGen UID:
852449
Concept ID:
C0235357
Congenital Abnormality
Developmental hypoplasia of teeth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Delayed eruption of primary teeth
MedGen UID:
341477
Concept ID:
C1849538
Finding
Delayed tooth eruption affecting the primary dentition.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Slender nose
MedGen UID:
347514
Concept ID:
C1857645
Finding
Anhidrosis
MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
Inability to sweat.
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the lustre (shine or gleam) of normal hair.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality of the pigmentation of the skin.
Prematurely aged appearance
MedGen UID:
346633
Concept ID:
C1857656
Finding
Progeroid facial appearance
MedGen UID:
341830
Concept ID:
C1857710
Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Decreased lacrimation
MedGen UID:
116004
Concept ID:
C0235857
Finding
Abnormally decreased lacrimation, that is, reduced ability to produce tears.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Abnormality of visual evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
Increased cellular sensitivity to UV light
MedGen UID:
346648
Concept ID:
C1857707
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cockayne syndrome type 2 in Orphanet.

Professional guidelines

PubMed

Giambona A, Vinciguerra M, Leto F, Cassarà F, Cucinella G, Cigna V, Orlandi E, Piccione M, Picciotto F, Maggio A
J Obstet Gynaecol 2022 Jul;42(5):1524-1531. Epub 2022 Jan 10 doi: 10.1080/01443615.2021.2014429. PMID: 35006018
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ
Neuroscience 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1 doi: 10.1016/j.neuroscience.2006.12.020. PMID: 17276014Free PMC Article
Rosell R, Taron M, Alberola V, Massuti B, Felip E
Lung Cancer 2003 Aug;41 Suppl 1:S97-102. doi: 10.1016/s0169-5002(03)00151-x. PMID: 12867068

Recent clinical studies

Etiology

Vijayraghavan S, Saini N
Chem Res Toxicol 2023 Jul 17;36(7):983-1001. Epub 2023 Jun 26 doi: 10.1021/acs.chemrestox.3c00045. PMID: 37363863Free PMC Article
Natale V, Raquer H
Orphanet J Rare Dis 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. PMID: 28376890Free PMC Article
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Diagnosis

Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T
Cell 2020 Mar 19;180(6):1228-1244.e24. Epub 2020 Mar 5 doi: 10.1016/j.cell.2020.02.010. PMID: 32142649
Mullenders LHF
Photochem Photobiol Sci 2018 Dec 5;17(12):1842-1852. doi: 10.1039/c8pp00182k. PMID: 30065996
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH
Nat Rev Mol Cell Biol 2014 Jul;15(7):465-81. doi: 10.1038/nrm3822. PMID: 24954209
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article

Therapy

Crochemore C, Cimmaruta C, Fernández-Molina C, Ricchetti M
Antioxid Redox Signal 2022 Jul;37(1-3):208-228. Epub 2022 Jan 4 doi: 10.1089/ars.2020.8242. PMID: 34428933
Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A
Eur J Med Genet 2020 Jan;63(1):103612. Epub 2019 Jan 7 doi: 10.1016/j.ejmg.2019.01.002. PMID: 30630117
Yew YW, Giordano CN, Spivak G, Lim HW
J Am Acad Dermatol 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044. PMID: 27745642
Brennan-Minnella AM, Arron ST, Chou KM, Cunningham E, Cleaver JE
Environ Mol Mutagen 2016 Jun;57(5):322-30. Epub 2016 Jan 14 doi: 10.1002/em.21995. PMID: 27311994
Shah P, He YY
Photochem Photobiol 2015 Mar-Apr;91(2):254-64. Epub 2015 Jan 14 doi: 10.1111/php.12406. PMID: 25534312Free PMC Article

Prognosis

Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M
Pediatr Int 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. PMID: 25851792
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Saborio P, Scheinman J
Curr Opin Pediatr 1998 Apr;10(2):174-83. doi: 10.1097/00008480-199804000-00011. PMID: 9608896

Clinical prediction guides

Vijayraghavan S, Saini N
Chem Res Toxicol 2023 Jul 17;36(7):983-1001. Epub 2023 Jun 26 doi: 10.1021/acs.chemrestox.3c00045. PMID: 37363863Free PMC Article
Maguina M, Kang PB, Tsai AC, Pacak CA
Muscle Nerve 2023 Feb;67(2):101-110. Epub 2022 Oct 3 doi: 10.1002/mus.27721. PMID: 36190439Free PMC Article
Tiwari V, Baptiste BA, Okur MN, Bohr VA
Nucleic Acids Res 2021 Mar 18;49(5):2418-2434. doi: 10.1093/nar/gkab085. PMID: 33590097Free PMC Article
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Orphanet J Rare Dis 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. PMID: 33536051Free PMC Article
Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M
Pediatr Int 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. PMID: 25851792

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...