Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

por Verhoeven, Willem, Egger, Jos, Räkers, Emmy, van Erkelens, Arjen, Pfundt, Rolph, Willemsen, Marjolein H
Publicado 2018