Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

BACKGROUND: X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with congenital deafness. METHODS: The proband and the family membe...

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Detalles Bibliográficos
Autores principales: Lv, Yuan, Gu, Jia, Qiu, Hao, Li, Huan, Zhang, Zhitao, Yin, Shaowei, Mao, Yan, Kong, Lingyin, Liang, Bo, Jiang, Hongkun, Liu, Caixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825843/
https://www.ncbi.nlm.nih.gov/pubmed/31478598
http://dx.doi.org/10.1002/mgg3.967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825843/
https://www.ncbi.nlm.nih.gov/pubmed/31478598
http://dx.doi.org/10.1002/mgg3.967

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