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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Bibliografiset tiedot
Päätekijät: Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2007
Aiheet:
Short Report
Linkit: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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