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  1. Cockayne Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1342
    ... 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. Epidermolysis bullosa 
    https://medlineplus.gov/ency/article/001457.htm
    ... bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome; Epidermolysis bullosa simplex
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Cockayne syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1397
    ... between genotype and phenotype in the xeroderma pigmentosum-Cockayne syndrome-trichothiodystrophy spectrum Modified from DiGiovanna & Kraemer [2012] Table ...
  5. pdf2018MeShTreeHierarchy.pdf 
    https://www.nlm.nih.gov/mesh/2018/download/2018MeShTreeHierarchy.pdf
    ... 500...........................................Thanatophoric Dysplasia C05.116.099.343.250...........................................Cockayne Syndrome C05.116.099.343.347...........................................Congenital Hypothyroidism C05. ...
  6. pdfNLM Technical Bulletin, no.129-140 
    https://www.nlm.nih.gov/.../nlmarchives/techbull/129-140-1980.pdf
    ... 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. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... 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. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/cockayne-syndrome</url><title >Cockayne syndrome</title><other_names ><other_name >CS</other_name>< ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Druze ... 
    https://www.ncbi.nlm.nih.gov/books/NBK549466
    ... 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. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... 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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