Article
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.
Ophthalmic genetics - 1 Dec 1999
Kanis A B, Al-Rajhi A A, Taylor C M, Mathers W D, Folberg R Y, Nishimura D Y, Sheffield V C, Stone E M
Abstract excerpt
Congenital hereditary endothelial dystrophy (CHED) is a disorder of the corneal endothelium and has been recognized to segregate in families with both autosomal dominant (AD) and autosomal recessive (AR) modes of transmission. AD-CHED has been previously linked to the pericentric region of chromosome 20. Posterior polymorphous dystrophy (PPMD), a corneal endothelial disorder showing phenotypic overlap with CHED,...
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