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Article

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

Molecular vision - 14 Aug 2002

Venkatesh C P, Pillai V S, Raghunath A, Prakash V S, Vathsala R, Pericak-Vance Margaret A, Kumar A

Abstract excerpt

PURPOSE: To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family. METHODS: Individuals were examined and their peripheral blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.2-q12 (CFEOM1) and chromosome 16q24 (CFEOM3) using...

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PMID: 12181522

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