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Article

Cockayne syndrome: review of 140 cases.

American journal of medical genetics - 1 Jan 1992

Nance M A, Berry S A

Abstract excerpt

To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The...

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Identifiers

PMID: 1308368
DOI: 10.1002/ajmg.1320420115

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