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MeSH:(Waardenburg Syndrome/genetics*)

2.Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome.

Jing MA ; Cheng MING ; Ken LIN ; Li Ping ZHAO ; Xian Yun BI ; Guo LI ; Tie Song ZHANG ; Biao RUAN

Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2021;56(1):47-54

3.Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Shu-Zhi YANG ; Ju-Yang CAO ; Rui-Ning ZHANG ; Li-Xian LIU ; Xin LIU ; Xin ZHANG ; Dong-Yang KANG ; Mei LI ; Dong-Yi HAN ; Hui-Jun YUAN ; Wei-Yan YANG

Chinese Medical Journal 2007;120(1):46-49

5.Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation.

Hua ZHANG ; ; Hongsheng CHEN ; Yong FENG ; Minfei QIAN ; Jiping LI ; Jun LIU ; Chun ZHANG

Chinese Journal of Medical Genetics 2016;33(4):466-470

6.Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss.

Chiyan ZHOU ; Xiaodan LIU ; Qinhao SONG ; Suping LI ; Shaoping ZHONG ; Huaxiang SHEN

Chinese Journal of Medical Genetics 2019;36(5):477-479

7.Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome.

Lulu WANG ; Lu MAO ; Hongen XU ; Shuping SUN ; Bin ZUO ; Wei LU

Chinese Journal of Medical Genetics 2023;40(6):661-667

8.Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene.

Jingjing LI ; Hongfei KANG ; Xiangdong KONG

Chinese Journal of Medical Genetics 2023;40(11):1367-1372

9.Three Cases of Waardenburg Syndrome Type 2 in a Korean Family.

Joong Hyuk CHOI ; Sung Kyun MOON ; Ki Hwang LEE ; Ho Min LEW ; Yoon Hee CHANG

Korean Journal of Ophthalmology 2004;18(2):185-189

10.Construction and analysis of recombinant eukaryotic expression plasmids for SOX10, the causative gene of Warrdenburg syndrome.

Hua ZHANG ; Juan FENG ; Hongsheng CHEN ; Jiada LI ; Hunjin LUO ; Yong FENG

Chinese Journal of Medical Genetics 2015;32(1):49-55

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