Eye (Lond). 2005 Jan;19(1):92-6.

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.

Diaper CJ, Schorderet DF, Chaubert P, Munier FL.

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Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF UK.

Abstract

A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.

PMID:: 15094731; [PubMed - indexed for MEDLINE]

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Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.

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