Two different PAX3 gene mutations causing Waardenburg syndrome type I

1996 ◽  
Vol 10 (3) ◽  
pp. 229-231 ◽  
Author(s):  
G. Wildhardt ◽  
A. Winterpacht ◽  
K. Hilbert ◽  
H. Menger ◽  
B. Zabel
Keyword(s):  
Gene Mutations ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

scholarly journals A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

2019 ◽  
Vol 7 (7) ◽  
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

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family

2015 ◽  
Vol 79 (10) ◽  
pp. 1736-1740 ◽  
Author(s):  
Nazanin Jalilian ◽  
Mohammad Amin Tabatabaiefar ◽  
Mohammad Farhadi ◽  
Tayyeb Bahrami ◽  
Mohammad Reza Noori-Daloii
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene ◽  
Iranian Family

scholarly journals Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

2007 ◽  
Vol 120 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Shu-zhi YANG ◽  
Ju-yang CAO ◽  
Rui-ning ZHANG ◽  
Li-xian LIU ◽  
Xin LIU ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Nonsense Mutations ◽  
Pax3 Gene

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I

Gene ◽  
2018 ◽  
Vol 642 ◽  
pp. 362-366 ◽  
Author(s):  
Zhijie Niu ◽  
Jiada Li ◽  
Fen Tang ◽  
Jie Sun ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

scholarly journals Waardenburg syndrome type I

2017 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
VirendraN Sehgal ◽  
Pardeep Venkatesh
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Waardenburg Syndrome Type I

2020 ◽  
Vol 87 (3) ◽  
pp. 244-244
Author(s):  
Vykuntaraju K. Gowda ◽  
Sahana Srinivas ◽  
Varunvenkat M. Srinivasan
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)

1992 ◽  
Vol 44 (5) ◽  
pp. 699-700 ◽  
Author(s):  
Susan J. Kirkpatrick ◽  
Christine M. Kent ◽  
Renata Laxova ◽  
Gurbax S. Sekhon
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome
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