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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non‐syndromic congenital hereditary endothelial corneal...

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Autors principals: Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597979/
https://ncbi.nlm.nih.gov/pubmed/17220209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046904
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