- ... Search term GeneReviews Advanced Search Help < Prev Next > Cockayne Syndrome Vincent Laugel , MD, PhD. Author Information and Affiliations ... clinical severities and that intermediate phenotypes may arise. Cockayne syndrome (CS) type I, "classic" CS, in which the ...
- ... bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome; Epidermolysis bullosa simplex
- ... published></health-condition-summary><health-condition-summary ><name >Cockayne syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... between genotype and phenotype in the xeroderma pigmentosum-Cockayne syndrome-trichothiodystrophy spectrum Modified from DiGiovanna & Kraemer [2012] Table ...
- ... 500...........................................Thanatophoric Dysplasia C05.116.099.343.250...........................................Cockayne Syndrome C05.116.099.343.347...........................................Congenital Hypothyroidism C05. ...
- ... we CHROMOOF.NIC COMPOUNDS IVh "(I 1*2 COCKAYNE SYNDROME 0 11699 141230 CI') 217 218 01611177230 H709 ... except by MeSH definition 81 DWARFISM, CACHECTIC sec COCKAYNE SYNDROME C5 11699343250 CI9 297 2.18 C16 13177 ...
- ... groups have been identified as having xeroderma pigmentosum-Cockayne syndrome (XP-CS) complex. These individuals have characteristics of ... dysfunction. It should be noted that people with Cockayne syndrome without XP do not appear to have an ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/cockayne-syndrome</url><title >Cockayne syndrome</title><other_names ><other_name >CS</other_name>< ...
- ... NP_001269373 .1 Issler et al [2022] ERCC6 Cockayne syndrome AR c.1034_1035insT p.Lys345AsnfsTer24 ~100% 4 ... Kfir N, Nasser W, Slor H, Khayat M. Cockayne syndrome type II in a Druze isolate in Northern ...
- ... NP_001229804 .1 Strauss et al [2018] ERCC6 Cockayne syndrome AR c.2709+1G>T (IVS14+1G>T) -- ~ ... Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Mol Syndromol. 2013;3:288-90. [ PMC free ...
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