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A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review

OBJECTIVE: The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss. METHODS: Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next‐generation sequencing (NGS) and verified by Sanger...

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Detalles Bibliográficos
Autores principales:	Wang, Zhili, Jiang, Mengda, Wu, Hao, Li, Yun, Chen, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Pediatrics and Development
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194966/ https://www.ncbi.nlm.nih.gov/pubmed/35734045 http://dx.doi.org/10.1002/lio2.829

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