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Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family

PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, is essential for the normal maturation and function of hair bundle in the cochlea. Its mutations can cause the defects of stereocilia in hair cell, which lead to nonsyndromic sensorineural hearing loss. Using next-generation sequencing an...

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Detalles Bibliográficos
Autores principales:	Wu, Xia, Wang, Shan, Chen, Sen, Wen, Ying-ying, Liu, Bo, Xie, Wen, Li, Dan, Liu, Lin, Huang, Xiang, Sun, Yu, Kong, Wei-jia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932988/ https://www.ncbi.nlm.nih.gov/pubmed/29849575 http://dx.doi.org/10.1155/2018/9425725

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