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A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness

PURPOSE: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. METHODS: The proband underwent a thorough physical examination and a detailed audiological and temporal bone computed tomography (CT) scan. Cochlear implantation was performed on the proband, and...

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Detalles Bibliográficos
Autores principales: Yu, Rong, Wang, Kai, Xiong, Yuanping, Jiang, Hongqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392402/
https://www.ncbi.nlm.nih.gov/pubmed/36000053
http://dx.doi.org/10.1002/lio2.850