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Article

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Journal of medical genetics - 1 May 2007

Desir Julie, Moya Graciela, Reish Orit, Van Regemorter Nicole, Deconinck Hilde, David Karen L, Meire Françoise M, Abramowicz Marc J

Abstract excerpt

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non-syndromic congenital hereditary endothelial corneal dystrophy (CHED2) both map at overlapping loci at 20p13, and mutations of SLC4A11 were reported recently in CHED2. A...

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Identifiers

PMID: 17220209
DOI: 10.1136/jmg.2006.046904
PMCID: PMC2597979

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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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