Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

PURPOSE: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrop...

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Detalles Bibliográficos
Autores principales: Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Manir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cornea 2013
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195577/
https://www.ncbi.nlm.nih.gov/pubmed/24351571
http://dx.doi.org/10.1097/ICO.0000000000000041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195577/
https://www.ncbi.nlm.nih.gov/pubmed/24351571
http://dx.doi.org/10.1097/ICO.0000000000000041

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