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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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: 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
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: Public Library of Science (PLoS) 2016-01-01
Цуврал:PLoS ONE
Онлайн хандалт:http://europepmc.org/articles/PMC5152817?pdf=render

Интернэт

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

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