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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Xia Wu, Shan Wang, Sen Chen, Ying-ying Wen, Bo Liu, Wen Xie, Dan Li, Lin Liu, Xiang Huang, Yu Sun, Wei-jia Kong
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Neural Plasticity
Online Access:http://dx.doi.org/10.1155/2018/9425725
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items