Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China-Reference-Cited by-同舟云学术

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Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China

Published:2013-08-05 Issue:9 Volume:161 Page:2226-2233
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chai Yongchuan¹²,Huang Zhiwu¹²,Tao Zheng²³,Li Xiaohua¹²,Li Lei¹²,Li Yun¹²,Wu Hao¹²,Yang Tao¹²

Affiliation:

1. Department of Otorhinolaryngology-Head and Neck Surgery; Xinhua Hospital, Shanghai Jiaotong University School of Medicine; Shanghai China

2. Ear Institute; Shanghai Jiaotong University School of Medicine; Shanghai China

3. Department of Otolaryngology; Shanghai Children's Medical Center; Shanghai China

Funder

National Basic Research Program of China

National Science Foundation of China

Shanghai Municipal Science and Technology Commission

Shu Guang Project

Oriental Scholar project from Shanghai Municipal Education Commission

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36068/fullpdf

Reference14 articles.

1. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations;Campbell;Hum Mutat,2001

2. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS);Everett;Nat Genet,1997

3. Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children;Hu;Int J Pediatr Otorhinolaryngol,2012

4. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening;Li;Hum Mutat,2008

5. A mutation in PDS causes nonsyndromic recessive deafness;Li;Nat Genet,1998

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2. Functional Studies of Deafness-Associated Pendrin and Prestin Variants;International Journal of Molecular Sciences;2024-02-27

3. A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts;Molecular Genetics & Genomic Medicine;2024-02

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