Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz H (2012)
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Orphanet J Rare Dis 7: 59