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

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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Bibliographic Details
Main Authors: Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H Skarżyński, Monika Ołdak, Rafał Płoski
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5152817?pdf=render

Internet

http://europepmc.org/articles/PMC5152817?pdf=render

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