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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |