Recessive mutations in SCNM1 are a new cause of Orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia

Asier Iturrate,Ana Rivera-Barahona,Carmen-Lisset Flores, Ghada Aotaify,Rasha Elhossini, Marina L. Perez-Sanz, Julian Nevado, Jair Tenorio, Juan Carlos Trivino,Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio,Alessandro De Luca,Leopoldo Martinez,Tugba Kalayci, Pablo Lapunzina,Umut Altunoglu,Mona Aglan,Ebtesam Abdalla,Victor Ruiz-Perez

EUROPEAN JOURNAL OF HUMAN GENETICS(2024)

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