Dictionary of Human Evolution and Biology

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Cockayne Syndrome

Autosomal recessive disorder characterized by short stature, sensitivity to light, and the appearance of premature aging. In type I, onset is after one year, progressive; type II is congenital. Either of two genes is mutated (CSA or CSB); also involves excision-repair cross-complementation group 8 (ERCC8). Mutations compromise normal transcription-coupled repair during DNA replication.

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