Es una enfermedad rara hereditaria autosomica reseciva descrita en 1936 por edward a. Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological. Repair protein persistence at dna lesions characterizes xpf defect. The devastating genetic disorder cockayne syndrome cs arises from. Pdf the metabolic and molecular bases of cockayne syndrome. Dec 28, 2000 cockayne syndrome is inherited in an autosomal recessive manner. Xpb, xpd, xpg and xpf combine dermatological fea tures of xp. Both parents of an affected child are obligate carriers of an abnormal gene. A complex intragenic rearrangement of ercc8 in chinese siblings. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity. Human cockayne syndrome b protein reciprocally communicates.
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