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

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Julie Désir, Graciela Moya, Orit Reish, Nicole Van Regemorter, H. Deconinck, Karen L. David, Françoise Meire, Marc Abramowicz
Formatua: Artigo
Hizkuntza:ingelesa
Argitaratua: 2007
Sarrera elektronikoa:https://doi.org/10.1136/jmg.2006.046904
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Internet

https://doi.org/10.1136/jmg.2006.046904

Antzeko izenburuak