Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family

RATIONALE: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. PATIENT CONCERNS: A propositus was diagnosed as ARNSHL with bilate...

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Detalles Bibliográficos
Autores principales: Lan, Xinqiang, Sun, Shiyu, Lan, Xin, Niu, Linyuan, Zhang, Chunxiao, Chen, Xiaoli, Xia, Ningning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922571/
https://www.ncbi.nlm.nih.gov/pubmed/31852093
http://dx.doi.org/10.1097/MD.0000000000018253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922571/
https://www.ncbi.nlm.nih.gov/pubmed/31852093
http://dx.doi.org/10.1097/MD.0000000000018253

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