Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family-Reference-Cited by-同舟云学术

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Published:2015-04-28 Issue:4 Volume:10 Page:e0124757
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Gao Xue,Su Yu,Chen Yu-Lan,Han Ming-Yu,Yuan Yong-Yi,Xu Jin-Cao,Xin Feng,Zhang Mei-Guang,Huang Sha-Sha,Wang Guo-Jian,Kang Dong-Yang,Guan Li-Ping,Zhang Jian-Guo,Dai Pu

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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4. How the genetics of deafness illuminates auditory physiology;GP Richardson;Annu Rev Physiol,2011

5. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness;S Delmaghani;Hum Mol Genet,2012

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1. Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss;Frontiers in Genetics;2024-08-14

2. Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort;Genes;2024-04-12

3. Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient;Journal of Clinical Laboratory Analysis;2023-04

4. Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?;Frontiers in Cell and Developmental Biology;2023-01-23

5. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29