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Article

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.

Ophthalmic genetics - 1 Mar 2008

Shah Shaival S, Al-Rajhi Ali, Brandt James D, Mannis Mark J, Roos Ben, Sheffield Val C, Syed Nasreen A, Stone Edwin M, Fingert John H

Abstract excerpt

OBJECTIVE: To determine the role of the SLC4A11 gene in two pedigrees affected with autosomal recessive congenital hereditary endothelial dystrophy (CHED). METHODS: Nine members of a pedigree from the Kingdom of Saudi Arabia (pedigree 971G) and 2 twins in a pedigree from Bosnia (pedigree GGO413) were diagnosed with autosomal recessive CHED and contributed DNA samples for genetic studies. The proband of each...

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PMID: 18363173
DOI: 10.1080/13816810701850033

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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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