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Article

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.

Molecular vision - 31 Dec 2010

Paliwal Preeti, Sharma Arundhati, Tandon Radhika, Sharma Namrata, Titiyal Jeewan S, Sen Seema, Nag Tapas C, Vajpayee Rasik B

Abstract excerpt

PURPOSE: To identify the solute carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) mutation spectrum and to perform genotype-phenotype correlations in autosomal recessive Congenital Hereditary Endothelial Dystrophy (CHED2) in North Indian patients. METHODS: Twenty-five patients from twenty families clinically diagnosed with autosomal recessive CHED2 were recruited for the study. Clinical...

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PMID: 21203343
PMCID: PMC3013067

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

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