Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation-Reference-Cited by-同舟云学术

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Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Published:2016-02-01 Issue:1 Volume:17 Page:
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Yuan Yongyi,Gao Xue,Huang Bangqing,Lu Jingqiao,Wang Guojian,Lin Xi,Qu Yan,Dai Pu

Funder

National Natural Science Foundation of China

National Institute on Deafness and Other Communication Disorders

Nationsal Natural Science Foundation of China

Beijing Municipal Natural Science Foundation

National High Technology Research and Development Program of China 863 Program

National Basic Research Program of China

Beijing Nova programme

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12863-016-0333-1.pdf

Reference38 articles.

1. Morton CC, Nance WE. Newborn hearing screening--a silent revolution. N Engl J Med. 2006;354(20):2151–64.

2. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull. 2002;63:73–94.

3. Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, et al. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. J Genet Genomics. 2008;35(9):553–8.

4. Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C. The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. Am J Otol. 2000;21(2):181–7.

5. Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. Hear Res. 2004;188(1–2):42–6.

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