Variable hearing impairment in a DFNB2 family with a novelMYO7Amissense mutation-Reference-Cited by-同舟云学术

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Variable hearing impairment in a DFNB2 family with a novelMYO7Amissense mutation

Published:2010-02-04 Issue:6 Volume:77 Page:563-571
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Hildebrand MS,Thorne NP,Bromhead CJ,Kahrizi K,Webster JA,Fattahi Z,Bataejad M,Kimberling WJ,Stephan D,Najmabadi H,Bahlo M,Smith RJH

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01344.x/fullpdf

Reference36 articles.

1. Sensorineural hearing loss in children;Smith;Lancet,2005

2. Van Camp G Smith RJ. Hereditary hearing loss homepage 2008 http://webhost.ua.ac.be/hhh/

3. Defective myosin VIIA gene responsible for Usher syndrome type 1B;Weil;Nature,1995

4. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene;Weil;Nat Genet,1997

5. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness;Liu;Nat Genet,1997

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5. Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations;Genes;2021-02-15

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