Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
- Resource Type
- Article
- Authors
- Iturrate, Asier; Rivera-Barahona, Ana; Flores, Carmen-Lisset; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julián; Tenorio-Castano, Jair; Triviño, Juan Carlos; Garcia-Gonzalo, Francesc R.; Piceci-Sparascio, Francesca; De Luca, Alessandro; Martínez, Leopoldo; Kalaycı, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Perez, Victor L.
- Source
- In The American Journal of Human Genetics 6 October 2022 109(10):1828-1849
- Subject
- Language
- ISSN
- 0002-9297