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

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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… Click to show full abstract

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.

Keywords: progressive sensorineural; hearing; delayed progressive; hearing loss; sensorineural hearing

Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2023

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