A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child-Reference-Cited by-同舟云学术

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A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child

Published:2024-04-20 Issue:1 Volume:51 Page:
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Li Zhongxia^ORCID,Xu Ke,Zhou Zhumei,Liang Chi,Gu Weiyue,Ran Jianyu

Funder

National Natural Science Foundation of China

Guangxi Medicine and Health Science Research Project

Guangxi Medical University Youth Science Foundation

Scientific Research and Technology Development Program of Wuzhou

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11033-024-09469-7.pdf

Reference27 articles.

1. Song J et al (2016) Hearing loss in Waardenburg syndrome: a systematic review. Clin Genet 89(4):416–425

2. Hageman MJ, Delleman JW (1977) Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29(5):468–485

3. Pingault V et al (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31(4):391–406

4. Bondurand N et al (2007) Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 81(6):1169–1185

5. Baral V et al (2012) Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. PLoS ONE 7(7):e41927

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