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 |
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