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A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impai...

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Detalles Bibliográficos
Autores principales: Lachgar, María, Morín, Matías, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Ángel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8001007/
https://www.ncbi.nlm.nih.gov/pubmed/33809266
http://dx.doi.org/10.3390/genes12030411