Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families-Reference-Cited by-同舟云学术

Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families

Published:2019-11-09 Issue:3 Volume:39 Page:354-357
ISSN:0277-3740
Container-title:Cornea
language:en
Short-container-title:

Author:

Chaurasia Sunita,Ramappa Muralidhar,Annapurna Mohini,Kannabiran Chitra

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology

Reference18 articles.

1. NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation;Park;Mol Cell,2004

2. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2);Vithana;Nat Genet,2006

3. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11;Jiao;J Med Genet,2007

4. IC3D classification of corneal dystrophies-edition 2;Weiss;Cornea.,2015

5. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy;Desir;J Med Genet,2007

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