Associated Papers
Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss.
Zhang K et al.
Journal of Otology, 2025
Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.
Bengl D et al.
Bmc Medical Genomics, 2025
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
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
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Oziębło D et al.
Journal of Translational Medicine, 2019
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
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