A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations-Reference-Cited by-同舟云学术

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

Published:2020-05-07 Issue:10 Volume:139 Page:1315-1323
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Walls W. Daniel^ORCID,Moteki Hideaki,Thomas Taylor R.,Nishio Shin-ya,Yoshimura Hidekane,Iwasa Yoichiro,Frees Kathy L.,Nishimura Carla J.,Azaiez Hela,Booth Kevin T.^ORCID,Marini Robert J.,Kolbe Diana L.,Weaver A. Monique,Schaefer Amanda M.,Wang Kai,Braun Terry A.,Usami Shin-ichi,Barr-Gillespie Peter G.,Richardson Guy P.,Smith Richard J.^ORCID,Casavant Thomas L.

Funder

National Institute on Deafness and Other Communication Disorders

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-020-02174-y.pdf

Reference27 articles.

1. Centers for Disease Control and Prevention (2018) Hearing Loss in Children. https://www.cdc.gov/ncbddd/hearingloss/ehdi-data2015.html. Accessed 18 May 2018

2. Choi BY et al (2014) Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. PLoS ONE 9:e97040–e97040. https://doi.org/10.1371/journal.pone.0097040

3. Collin RWJ et al (2008) Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet 16:1430–1436. https://doi.org/10.1038/ejhg.2008.110

4. Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM (2001) Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 323:536–540. https://doi.org/10.1136/bmj.323.7312.536

5. Hildebrand MS et al (2011) DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat 32:825–834. https://doi.org/10.1002/humu.21512

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