Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype

BACKGROUND: Autosomal dominant hearing loss (ADHL) accounts for about 20% of all hereditary non‐syndromic HL. Truncating mutations of the EYA4 gene can cause either non‐syndromic ADHL or syndromic ADHL with cardiac abnormalities. It has been proposed that truncations of the C‐terminal Eya domain lea...

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Detalles Bibliográficos
Autores principales: Mi, Yanfang, Liu, Danhua, Zeng, Beiping, Tian, Yongan, Zhang, Hui, Chen, Bei, Zhang, Juanli, Xue, Hong, Tang, Wenxue, Zhao, Yulin, Xu, Hongen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963430/
https://www.ncbi.nlm.nih.gov/pubmed/33301229
http://dx.doi.org/10.1002/mgg3.1569

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