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Article

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.

Journal of clinical laboratory analysis - 1 Apr 2023

Qin Yao, Ma Yi'nan, Zeng Zhen'gang, Zhong Zhen, Qi Yu, Liu Yuhe

Abstract excerpt

BACKGROUND: The Protein tyrosine phosphatase receptor Q (PTPRQ) gene encodes a member of the type III receptor-like protein tyrosine phosphatase family found in the stereocilium. Mutations in PTPRQ are mostly associated with deafness, autosomal recessive type 84 (DFNB 84), which usually results in progressive familial hearing loss. METHODS: A 25-year-old woman and her sister, both with postlingual-delayed...

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Identifiers

PMID: 37106574
DOI: 10.1002/jcla.24886
PMCID: PMC10220294

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