Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome-Reference-Cited by-同舟云学术

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Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

Published:2011-05 Issue:4 Volume:408 Page:620-624
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Jiang Lu,Chen Hongsheng,Jiang Wen,Hu Zhengmao,Mei Lingyun,Xue Jingjie,He Chufeng,Liu Yalan,Xia Kun,Feng Yong

Funder

Chinese National Programs for High Technology Research and Development

National Nature Science Foundation of China

General Project of the Hunan Science and Technology Agency

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference14 articles.

1. Waardenburg syndrome;Read;J. Med. Genet.,1997

2. Mutation of the endothelin-3 gene in the Waardenburg–Hirschsprung disease (Shah–Waardenburg syndrome);Edery;Nat. Genet.,1996

3. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease;Puffenberger;Cell,1994

4. SOX10 mutations in patients with Waardenburg–Hirschsprung disease;Pingault;Nat. Genet.,1998

5. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability;Tamayo;Am. J. Med. Genet. A,2008

Cited by 20 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. Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High‐Throughput Sequencing in a Unique Cohort from South India;Advanced Genetics;2024-05-08

2. A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV;BMC Medical Genomics;2023-06-26

3. A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IV;2023-03-09

4. Association between Synonymous SNPs of SOX10 and Plumage Color and Reproductive Traits of Ducks;Animals;2022-11-29

5. Comparative role of SOX10 gene in the gliogenesis of central, peripheral, and enteric nervous systems;Differentiation;2022-11

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