a gene with many faces: mutation overview and presentation of CEP290base, Hum Mutat, 2010;31:1097–1108 ↑ Tsang SH, Aycinena AR, Sharma T, Ciliopathy: Bardet-Biedl syndrome
[fr.wikipedia.org]
’Hamdi O, Ouertani I, Chaabouni-Bouhamed H, Update on the genetics of Bardet-Biedl syndrome, Mol Syndromol, 2014;5:51–56 ↑ Coppieters F, Lefever S, Leroy BP, De Baere E, CEP290
[fr.wikipedia.org]