A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B). So far, 2 families have been reported with segregating missense mutations, both in the immunoglobulin constant domain A of the CEACAM16 protein. In this study, we used the TruSight One panel to investigate a parent-ch...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Hofrichter, Michaela A.H., Nanda, Indrajit, Gräf, Jens, Schröder, Jörg, Shehata-Dieler, Wafaa, Vona, Barbara, Haaf, Thomas
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2015
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4662267/
https://ncbi.nlm.nih.gov/pubmed/26648831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000439576
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