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

Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM,
Abramowicz MJ. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007 May;44(5):322-6.