Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Asier Iturrate, Ana Rivera‐Barahona, Carmen‐Lisset Flores, Ghada A. Otaify, Rasha M. Elhossini, Marina Leonor Pérez-Sanz, Julián Nevado, Jair Tenorio, Juan Carlos Triviño, Francesc R. García-Gonzalo, Francesca Piceci‐Sparascio, Alessandro De Luca, L Martínez, Tuğba Kalaycı, Pablo Lapunzina, Umut Altunoğlu, Mona Aglan, Ebtesam Abdalla, Víctor L. Ruiz‐Pérez