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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152817/
https://www.ncbi.nlm.nih.gov/pubmed/27941975
http://dx.doi.org/10.1371/journal.pone.0166618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152817/
https://www.ncbi.nlm.nih.gov/pubmed/27941975
http://dx.doi.org/10.1371/journal.pone.0166618

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