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93 results
  1. ... 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 ...
  2. ... bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome; Epidermolysis bullosa simplex
  3. ... published></health-condition-summary><health-condition-summary ><name >Cockayne syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. ... between genotype and phenotype in the xeroderma pigmentosum-Cockayne syndrome-trichothiodystrophy spectrum Modified from DiGiovanna & Kraemer [2012] Table ...
  5. ... 500...........................................Thanatophoric Dysplasia C05.116.099.343.250...........................................Cockayne Syndrome C05.116.099.343.347...........................................Congenital Hypothyroidism C05. ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/cockayne-syndrome</url><title >Cockayne syndrome</title><other_names ><other_name >CS</other_name>< ...
  9. ... 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 ...
  10. ... 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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