Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report

INTRODUCTION: Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (EYA4) gene, a transcription factor related to the development and function of the inner ear....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213617/
https://www.ncbi.nlm.nih.gov/pubmed/37251241
http://dx.doi.org/10.3389/fneur.2023.1183147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213617/
https://www.ncbi.nlm.nih.gov/pubmed/37251241
http://dx.doi.org/10.3389/fneur.2023.1183147

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