Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the c...

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Detalles Bibliográficos
Autores principales: Gao, Xue, Yuan, Yong-Yi, Wang, Guo-Jian, Xu, Jin-Cao, Su, Yu, Lin, Xi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303592/
https://www.ncbi.nlm.nih.gov/pubmed/28246597
http://dx.doi.org/10.1155/2017/4707315

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303592/
https://www.ncbi.nlm.nih.gov/pubmed/28246597
http://dx.doi.org/10.1155/2017/4707315

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