Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

por Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A
Publicado 2012

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

por Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Publicado 2012