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Article

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.

Orphanet journal of rare diseases - 17 Sept 2022

Salman Mohd, Verma Anshuman, Chaurasia Sunita, Prasad Deeksha, Kannabiran Chitra, Singh Vivek, Ramappa Muralidhar

Abstract excerpt

BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic alterations in SLC4A11, in two Indian familial CHED cases with affected members n = 3 and n = 2 respectively and five sporadic CHED cases using direct sequencing, followed by in silico analysis and characterization of the identified variants....

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Identifiers

PMID: 36115991
DOI: 10.1186/s13023-022-02521-4
PMCID: PMC9482203

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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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