Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report - Zambrano, Ana Karina; Paz-Cruz, Elius; Cadena-Ullauri, Santiago; Guevara-Ramírez, Patricia; Ruiz-Pozo, Viviana A.; Tamayo-Trujillo, Rafael; Ibarra-Castillo, Rita; Laso-Bayas, José Luis; Doménech, Nieves; Ibarra-Rodríguez, Adriana Alexandra; Hidalgo, Ricardo (Frontiers in neurology, 2023)
Keywords: case report; deafness; genome; muscular dystrophy; Neurology; NGS; genome; case report; muscular dystrophy; NGS; deafness