Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss

Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male sibli...

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Detalles Bibliográficos
Autores principales: Yu, Jing, Jiang, Wei, Cao, Li, Na, Xiaoxue, Yang, Jiyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684720/
https://www.ncbi.nlm.nih.gov/pubmed/33228777
http://dx.doi.org/10.1186/s41065-020-00157-7

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