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Results 1 - 10 of 12 for Cockayne "syndrome," type B
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  1. Cockayne syndrome 
    Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain ... can be seen on brain scans.People with Cockayne syndrome have a serious reaction to an antibiotic medication ...
    https://medlineplus.gov/genetics/condition/cockayne-syndrome - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. UV-sensitive syndrome 
    ... M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 ...
    https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome - Genetics
  7. Xeroderma pigmentosum 
    ... repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3; ...
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum - Genetics
  8. Trichothiodystrophy 
    ... repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3; ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  9. 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
  10. 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
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