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Results 1 - 9 of 9 for Cockayne syndrome
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  1. ERCC8 gene 
    ... gene provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged ... than 30 ERCC8 gene mutations that can cause Cockayne syndrome. This rare condition includes a variety of features, ...
    https://medlineplus.gov/genetics/gene/ercc8 - Genetics
  2. ERCC6 gene 
    ... gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing ... More than 60 ERCC6 gene mutations that cause Cockayne syndrome have been identified. This rare condition includes a ...
    https://medlineplus.gov/genetics/gene/ercc6 - Genetics
  3. ERCC3 gene 
    ... another condition related to defective DNA repair called Cockayne syndrome. When this combination of features occurs in the same individual, it is known as xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. People with XP/CS complex ...
    https://medlineplus.gov/genetics/gene/ercc3 - Genetics
  4. ERCC2 gene 
    ... another condition related to defective DNA repair called Cockayne syndrome. This combination of features is known as xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex.Researchers are uncertain how variants ...
    https://medlineplus.gov/genetics/gene/ercc2 - Genetics
  5. GTF2H5 gene 
    ... Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr ...
    https://medlineplus.gov/genetics/gene/gtf2h5 - Genetics
  6. XPC gene 
    ... mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat. 1999;14(1):9- ...
    https://medlineplus.gov/genetics/gene/xpc - Genetics
  7. XPA gene 
    ... mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat. 1999;14(1):9- ...
    https://medlineplus.gov/genetics/gene/xpa - Genetics
  8. MPLKIP gene 
    ... Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr ...
    https://medlineplus.gov/genetics/gene/mplkip - Genetics
  9. KRT14 gene 
    ... including the localized type (formerly called the Weber-Cockayne type) and a form known as the other ... have been found to cause Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This disorder is ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics