Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
Author:
Affiliation:
1. Department of Pathology, University College Cork, Cork, Ireland
2. Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
3. Department of Ophthalmology, Royal College of Surgeons in Ireland, Dublin, Ireland
Funder
Hospital Saturday Fund
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.3109/13816810.2016.1151901
Reference34 articles.
1. Corneal dystrophies
2. Linkage of congenital hereditary endothelial dystrophy to chromosome 20
3. Localization of the Gene for Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) to Chromosome 20 by Homozygosity Mapping
4. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
5. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
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