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Article

Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2005

Kannabiran Chitra, Sridhar Mittanamalli S, Chakravarthi S Kalyana, Vemuganti Geeta K, Lakshmipathi Meena

Abstract excerpt

OBJECTIVES: To determine genotypes in 2 Indian families with severe granular corneal dystrophy, to document clinical and histopathologic features, and to attempt a genotype-phenotype correlation. METHODS: Mutation analysis of exon 12 of the TGFBI gene was carried out in 9 individuals from 2 families. RESULTS: A C-->T mutation at residue 1710 of TGFBI complementary DNA, corresponding to an Arg555Trp mutation in...

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Source

Identifiers

PMID: 16087849
DOI: 10.1001/archopht.123.8.1127

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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