Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family

Hearing loss is among the most common congenital sensory impairments. Genetic causes account for more than 50% of the cases of congenital hearing loss. The PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, plays an important role in maintaining the stereocilia structure and function of h...

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Detalles Bibliográficos
Autores principales: Jin, Yuan, Liu, Xiao-Zhou, Xie, Le, Xie, Wen, Chen, Sen, Sun, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310072/
https://www.ncbi.nlm.nih.gov/pubmed/35899188
http://dx.doi.org/10.3389/fgene.2022.884522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310072/
https://www.ncbi.nlm.nih.gov/pubmed/35899188
http://dx.doi.org/10.3389/fgene.2022.884522

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