CEP250 and Usher syndrome: Khateb Khateb S S Zelinger Zelinger L L Mizrahi-Meissonnier Mizrahi-Meissonnier L L Ayuso Ayuso C C Koenekoop Koenekoop RK RK Laxer Laxer U U A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome J Med Genet J Med Genet 2014 2014 51 51 460 460 469 469 10.1136/jmedgenet-2014-102287 10.1136/jmedgenet-2014-102287 24780881 24780881