Autosomal Recessive CHED Associated With Novel Compound Heterozygous Mutations in SLC4A11

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 pro...

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Veröffentlicht in:Cornea 2007-08, Vol.26 (7), p.896-900
Hauptverfasser: 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
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Sprache:eng
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