Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault, Isabelle; Saunier, Sophie; Hanein, Sylvain; Filhol, Emilie; Bizet, Albane A; Collins, Felicity; Salih, Mustafa A M; Gerber, Sylvie; Delphin, Nathalie; Bigot, Karine; Orssaud, Christophe; Silva, Eduardo; Baudouin, Véronique; Oud, Machteld M; Shannon, Nora; Le Merrer, Martine; Roche, Olivier; Pietrement, Christine; Goumid, Jamal; Baumann, Clarisse; Bole-Feysot, Christine; Nitschke, Patrick; Zahrate, Mohammed; Beales, Philip; Arts, Heleen H; Munnich, Arnold; Kaplan, Josseline; Antignac, Corinne; Cormier-Daire, Valérie; Rozet, Jean-Michel.
Am J Hum Genet; 90(5): 864-70, 2012 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-22503633