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Article

Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

Cornea - 1 Aug 2007

Aldave Anthony J, Yellore Vivek S, Bourla Nirit, Momi Rominder S, Khan M Ali, Salem Andrew K, Rayner Sylvia A, Glasgow Ben J, Kurtz Ira

Abstract excerpt

PURPOSE: To determine the genetic basis of autosomal recessive congenital hereditary endothelial dystrophy (CHED2) in an American patient of Chinese ancestry. METHODS: Slit-lamp examination of the proband and his parents, as well as histopathologic examination of excised corneal specimens from the proband, were performed to confirm the diagnosis of autosomal recessive CHED. DNA was collected from the proband and...

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PMID: 17667634
DOI: 10.1097/ICO.0b013e318074bb01

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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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