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

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 p...

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Detalles Bibliográficos
Autores principales: Qin, Yao, Ma, Yi’nan, Zeng, Zhen’gang, Zhong, Zhen, Qi, Yu, Liu, Yuhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220294/
https://www.ncbi.nlm.nih.gov/pubmed/37106574
http://dx.doi.org/10.1002/jcla.24886

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