Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II-Reference-Cited by-同舟云学术

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Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II

Published:2015-10 Issue:10 Volume:79 Page:1718-1721
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Wenzhi He,Ruijin Wen,Jieliang Li,Xiaoyan Ma,Haibo Liu,Xiaoman Wang,Jiajia Xian,Shaoying Li,Shuanglin Li,Qing Li

Funder

Science and Technology Planning Project of Guangdong Province

Science and Technology Planning Project of Guangzhou

Open Project of Shanghai Key Lab of Forensic Medicine

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Waardenburg syndrome: more common than you think!;Zaman;Clin. Otolaryngol.,2015

2. Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2;Baral;PLoS ONE,2012

3. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome;Chaoui;Hum. Mutat.,2011

4. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am. J. Hum. Genet.,2007

5. From stem cells to neurons and glia: a Soxist's view of neural development;Wegner;Trends. Neurosci.,2005

Cited by 10 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. SOX10 promotes the malignant biological behavior of basal-like breast cancer cells by regulating EMT process;Heliyon;2023-12

2. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04

3. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant;PLOS ONE;2021-02-11

4. Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation;Fetal and Pediatric Pathology;2020-03-11

5. Comprehensive analysis of syndromic hearing loss patients in Japan;Scientific Reports;2019-08-19

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