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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Guan, Jing, Wang, Hongyang, Lan, Lan, Wu, Yusen, Chen, Guohui, Zhao, Cui, Wang, Dayong, Wang, Qiuju
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434732/
https://ncbi.nlm.nih.gov/pubmed/32567228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1367
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