Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss-Reference-Cited by-同舟云学术

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

Published:2016-12-12 Issue:12 Volume:11 Page:e0166618
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

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

Funder

Narodowe Centrum Nauki

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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3. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. American journal of medical genetics;A Pollak;Part A,2007

4. Nonsyndromic hearing impairment: unparalleled heterogeneity;G Van Camp;American journal of human genetics,1997

5. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3;M Bitner-Glindzicz;Human molecular genetics,1995

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