Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

Autor: Chacon-Camacho, Oscar F., Barragán-Arévalo, Tania, Villarroel, Camilo E., Almanza-Monterrubio, Mónica, Zenteno, Juan Carlos
Zdroj: In European Journal of Medical Genetics May 2020 63(5)
Databáze: ScienceDirect