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Article

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

6 Jul 2006

Abstract excerpt

OBJECTIVE: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation. METHODS: Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12....

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PMID: 16825429
DOI: 10.1136/jmg.2006.044644

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