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Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2015.03.006
◽
2015
◽
Vol 79
(5)
◽
pp. 745-748
◽
Cited By ~ 5
Author(s):
Kaitian Chen
◽
Ling Zong
◽
Yuan Zhan
◽
Xuan Wu
◽
Min Liu
◽
...
Keyword(s):
Genetic Counseling
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
Download Full-text
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References
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II
Molecular Medicine Reports
◽
10.3892/mmr.2019.9815
◽
2019
◽
Cited By ~ 2
Author(s):
Jing Ma
◽
Zhen Zhang
◽
Hong‑Chao Jiang
◽
Hao Sun
◽
Cheng Ming
◽
...
Keyword(s):
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Dominant Mutation
◽
Sox10 Gene
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A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.1520
◽
2020
◽
Vol 8
(12)
◽
Author(s):
Shuzhi Yang
◽
Cuicui Wang
◽
Chengyong Zhou
◽
DongYang Kang
◽
Xin Zhang
◽
...
Keyword(s):
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Follow Up Study
◽
Truncating Mutation
Download Full-text
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2017.08.012
◽
2017
◽
Vol 102
◽
pp. 114-118
◽
Cited By ~ 2
Author(s):
Xueling Wang
◽
Xiao-Jiang Lin
◽
Xiangrong Tang
◽
Yong-Chuan Chai
◽
De-Hong Yu
◽
...
Keyword(s):
Genetic Analysis
◽
Usher Syndrome
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Type Iv
◽
Usher Syndrome Type
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De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2014.03.014
◽
2014
◽
Vol 78
(6)
◽
pp. 926-929
◽
Cited By ~ 10
Author(s):
Kaitian Chen
◽
Ling Zong
◽
Min Liu
◽
Yuan Zhan
◽
Xuan Wu
◽
...
Keyword(s):
De Novo
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Dominant Mutation
◽
Sox10 Gene
Download Full-text
Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2015.07.034
◽
2015
◽
Vol 79
(10)
◽
pp. 1718-1721
◽
Cited By ~ 5
Author(s):
He Wenzhi
◽
Wen Ruijin
◽
Li Jieliang
◽
Ma Xiaoyan
◽
Liu Haibo
◽
...
Keyword(s):
Gene Locus
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Heterozygous Deletion
◽
Sox10 Gene
Download Full-text
A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II
Journal of Genetics and Genomics
◽
10.1016/j.jgg.2011.11.003
◽
2011
◽
Vol 38
(12)
◽
pp. 585-591
◽
Cited By ~ 11
Author(s):
Xukun Yan
◽
Tianyu Zhang
◽
Zhengmin Wang
◽
Yi Jiang
◽
Yan Chen
◽
...
Keyword(s):
Novel Mutation
◽
Chinese Family
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Gjb2 Mutations
Download Full-text
Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing
Journal of Clinical Laboratory Analysis
◽
10.1002/jcla.23792
◽
2021
◽
Author(s):
Mahzad Nasirshalal
◽
Mohammad Panahi
◽
Nahid Javanshir
◽
Hamzeh Salmani
Keyword(s):
Next Generation Sequencing
◽
Heterozygous Mutation
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Next Generation
◽
Iranian Family
◽
Generation Sequencing
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The case of Waardenburg syndrome type II caused of nonsense-variant of the MITF gene in the context of the epigenetic mosaicism hypothesis
Yakut Medical Journal
◽
10.25789/ymj.2021.76.28
◽
2021
◽
pp. 118-119
Author(s):
T.M. Teryutin
◽
N.A. Barashkov
◽
N.A. Lebedeva
Keyword(s):
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
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A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.798
◽
2019
◽
Vol 7
(7)
◽
Cited By ~ 2
Author(s):
Jing Ma
◽
Ken Lin
◽
Hong‐chao Jiang
◽
Yanli Yang
◽
Yu Zhang
◽
...
Keyword(s):
Novel Mutation
◽
Chinese Family
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Pax3 Gene
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Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum
International Journal of Dermatology
◽
10.1111/j.1365-4362.1997.tb04158.x
◽
2008
◽
Vol 36
(12)
◽
pp. 933-935
◽
Cited By ~ 3
Author(s):
Anthony J. Mancini
Keyword(s):
Family History
◽
Pseudoxanthoma Elasticum
◽
Syndrome Type
◽
Type Ii
◽
Waardenburg Syndrome
◽
Taiwanese Woman
◽
History Of
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