Journal Article
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller; C. Stoetzel; M. C. Vincent; C. C. Leitch; V. Laurier; J. M. Danse; S. Hellé; V. Marion; V. Bennouna-Greene; S. Vicaire; A. Megarbane; J. Kaplan; V. Drouin-Garraud; M. Hamdani; S. Sigaudy; C. Francannet; J. Roume; P. Bitoun; A. Goldenberg; N. Philip; S. Odent; J. Green; M. Cossée; E. E. Davis; N. Katsanis; D. Bonneau; A. Verloes; O. Poch; J. L. Mandel; H. Dollfus
Human Genetics · Vol. 127, Issue 5 · pp. 583-593 · 2010