Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

BACKGROUND: Hereditary hearing loss (HL) is heterogeneous in terms of their phenotypic features, modes of inheritance, and causative gene mutations. The contribution of genetic variants to sporadic HL remains largely expanding. Either recessive or de novo dominant variants could result in an apparen...

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Detalles Bibliográficos
Autores principales: Guan, Jing, Wang, Hongyang, Lan, Lan, Wu, Yusen, Chen, Guohui, Zhao, Cui, Wang, Dayong, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434732/
https://www.ncbi.nlm.nih.gov/pubmed/32567228
http://dx.doi.org/10.1002/mgg3.1367

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