Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here,...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: JanssensdeVarebeke, Sebastien P. F., Van Camp, Guy, Peeters, Nils, Elinck, Ellen, Widdershoven, Josine, Cox, Tony, Deben, Kristof, Ketelslagers, Katrien, Crins, Tom, Wuyts, Wim
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2018
Gaiak:
Brief Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891501/
https://ncbi.nlm.nih.gov/pubmed/29449721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0066-2
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