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Stickler's syndrome. A report of a family.

作者信息

Hill J C, Nelson M M

机构信息

Department of Ophthalmology, University of Cape Town, Groote Schuur Hospital.

出版信息

S Afr Med J. 1989 Mar 4;75(5):238-41.

PMID:2928863
Abstract

Stickler's syndrome is an autosomal dominant condition characterised by degenerative eye and joint diseases. The eye disorders frequently lead to blindness from retinal detachments and there is often associated hearing loss. The condition has not previously been reported in the RSA. Five patients in a family spanning two generations are described.

摘要

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