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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Bibliographische Detailangaben
Hauptverfasser: Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
Schlagworte:
Short Report
Online Zugang: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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