Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

by Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller
Published 2019-01-01