Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Guan, Jing, Wang, Hongyang, Lan, Lan, Wu, Yusen, Chen, Guohui, Zhao, Cui, Wang, Dayong, Wang, Qiuju
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!