Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) identified to date. Clinical manifestations of DFNX2 usually comprise congenital HL either sensorineural or mixed, a tendency towards perilymphatic gusher during otologic surgery and temporal bone malforma...

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Detalhes bibliográficos
Publicado no:PLoS One
Principais autores: Pollak, Agnieszka, Lechowicz, Urszula, Kędra, Anna, Stawiński, Piotr, Rydzanicz, Małgorzata, Furmanek, Mariusz, Brzozowska, Małgorzata, Mrówka, Maciej, Skarżyński, Henryk, Skarżyński, Piotr H., Ołdak, Monika, Płoski, Rafał
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5152817/
https://ncbi.nlm.nih.gov/pubmed/27941975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0166618
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