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Cockayne syndrome

Pronunciation: kok'an

Definition: dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal recessive inheritance associated with defective excision repair of DNA. There are various complementation groups.

Synonym(s): Cockayne disease

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.