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Letters to the Journal

Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11

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Pages 284-286 | Received 08 Sep 2013, Accepted 28 Dec 2013, Published online: 06 Feb 2014

References

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  • Ramprasad VL, Ebenezer ND, Aung T, et al. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. Hum Mutat 2007;28:522–523
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  • Sultana A, Garg P, Ramamurthy B, et al. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis 2007;13:1327–1332
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  • Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006;38:755–757
  • Vilas GL, Loganathan SK, Quon A, et al. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. Hum Mutat 2012;33:419–428

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