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Keyword - Cockayne syndrome (KW-0172)

Definition

Protein which, if defective, causes Cockayne's syndrome (CS), an autosomal recessive disease characterized by UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes) and dysmorphic dwarfism (immature sexual development and microcephaly).

Synonyms

  • Cockayne's syndrome
  • CS

Category

Disease

Graphical

DiseaseCockayne syndrome