Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome-Reference-Cited by-同舟云学术

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Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

Published:2016-06 Issue: Volume:85 Page:75-79
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Zhang Fengguo,Bai Xiaohui,Xiao Yun,Zhang Xue,Zhang Guodong,Li Jianfeng,Xu Lei,Wang Haibo

Funder

National 973 Basic Research Program of China

Research Special Fund for Public Welfare Industry of Health

National Natural Science Foundation of China

China Post doctoral Science Foundation

Natural Science Foundation of Shandong Province

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct;Huang;J. Transl. Med.,2011

2. Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts;Landa;BMC Med. Genet.,2013

3. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct;Ladsous;Thyroid,2014

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

5. Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss;Cama;Int. J. Pediatr. Otorhinolaryngol.,2009

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review;Frontiers in Genetics;2023-09-07

2. Cochlear Nerve Canal Stenosis: Association With MYH14 and MYH9 Genes;Ear, Nose & Throat Journal;2021-03-08

3. Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation;Neural Plasticity;2020-09-01

4. Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report;International Journal of Pediatric Otorhinolaryngology;2020-07

5. Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China;Scientific Reports;2019-06-04

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