Associated Papers
A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.
Zhou Y et al.
Clinical Genetics, 2025
Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.
Hou Y et al.
Frontiers in Genetics, 2024
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.
Qin Y et al.
Journal of Clinical Laboratory Analysis, 2023
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family.
Jin Y et al.
Frontiers in Genetics, 2022
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
Hendriks WJAJ et al.
Frontiers in Cell and Developmental Biology, 2022
36755664 (PubMed )
Supplement: Table1.XLSX › Suppl_Table_1
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G et al.
Bmc Medical Genomics, 2021
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
Talebi F et al.
Cell Journal, 2018
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.
Wu X et al.
Neural Plasticity, 2018
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.
Sang Q et al.
Molecular Genetics and Genomics : Mgg, 2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
Sakuma N et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
Gao X et al.
Plos One, 2015
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.
Shahin H et al.
Journal of Medical Genetics, 2010
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