Article
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
The British journal of ophthalmology - 1 Aug 1999
Bessant D A, Anwar K, Khaliq S, Hameed A, Ismail M, Payne A M, Mehdi S Q, Bhattacharya S S
Abstract excerpt
BACKGROUND: Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS: Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated...
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