A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

BACKGROUND: Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prenatal diag...

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Detalles Bibliográficos
Autores principales: Zhou, Cong, Xiao, Yuanyuan, Xie, Hanbing, Liu, Shanling, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353764/
https://www.ncbi.nlm.nih.gov/pubmed/34376197
http://dx.doi.org/10.1186/s12920-021-01052-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353764/
https://www.ncbi.nlm.nih.gov/pubmed/34376197
http://dx.doi.org/10.1186/s12920-021-01052-4

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