Article
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Human mutation - 1 May 2007
Ramprasad Vedam L, Ebenezer Neil D, Aung Tin, Rajagopal Rama, Yong Victor H K, Tuft Stephen J, Viswanathan Deepa, El-Ashry Mohamed F, Liskova Petra, Tan Donald T H, Bhattacharya Shomi S, Kumaramanickavel Govindasamy, Vithana Eranga N
Abstract excerpt
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 gene were reported. Here, we report seven novel mutations and two previously identified mutations in families from...
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