Novel SLC4A11 mutations in patients with
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Vedam L. Ramprasad; Neil D. Ebenezer; Tin Aung; Rama Rajagopal; Victor H.K. Yong
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Article
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2007
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John Wiley and Sons
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English
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Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 ge