RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Jeanson, Ludovic; Copin, Bruno; Papon, Jean-François; Dastot-Le Moal, Florence; Duquesnoy, Philippe; Montantin, Guy; Cadranel, Jacques; Corvol, Harriet; Coste, André; Désir, Julie; Souayah, Anissa; Kott, Esther; Collot, Nathalie; Tissier, Sylvie; Louis, Bruno; Tamalet, Aline; de Blic, Jacques; Clement, Annick; Escudier, Estelle; Amselem, Serge; Legendre, Marie.
Am J Hum Genet; 97(1): 153-62, 2015 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-26073779