Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I

2020 ◽  
Author(s):  
Zhijie Niu ◽  
Lingyun Mei ◽  
Fen Tang ◽  
Jiada Li ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Missense Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

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

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

2008 ◽  
Vol 146A (8) ◽  
pp. 1032-1037 ◽  
Author(s):  
Matías Morín ◽  
Antonio Viñuela ◽  
Teresa Rivera ◽  
Manuela Villamar ◽  
Miguel A. Moreno-Pelayo ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Missense Mutation ◽  
De Novo ◽  
Sporadic Case ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Gene Encoding ◽  
Type Iv

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

scholarly journals Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

2017 ◽  
Vol 62 (7) ◽  
pp. 703-709 ◽  
Author(s):  
Jie Sun ◽  
Ziqi Hao ◽  
Hunjin Luo ◽  
Chufeng He ◽  
Lingyun Mei ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Nonstop Mutation

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

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family
Sign in / Sign up

Export Citation Format

Share Document