Home
Search Center
Journal List
CMA
Contact US
|
Chinese
You Position:
Home
> Paper
Waardenburg综合征一家系二例
( views:111, downloads:145 )
Author:
No author available
Journal Title:
Chinese Journal of Ocular Fundus Diseases
Issue:
12
DOI:
10.3760/cma.j.cn511434-20191018-00335
Key Word:
Waardenburg综合征;病例报告
Abstract: No abstract available
Reference
[1]Tsang, Stephen H.,Sharma, Tarun.
Retinitis Pigmentosa (Non-syndromic)
[J].2018,1085.
[2]Anil K. Lalwani,Ali Attaie,Frederick T. Randolph,etc.
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three‐generation Indian family
[J].1998,80(4).
[3]Talib, Mays,van Schooneveld, Mary J.,Van Cauwenbergh, Caroline,etc.
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene
[J].2018,59(10).
[4]Glenn Isaacson.
Worldwide Distribution of Waardenburg Syndrome
[J].2003,112(9).
[5]Akiko Yokoyama,Futoshi Maruiwa,Mutsuko Hayakawa,etc.
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X‐linked retinitis pigmentosa
[J].2001,104(3).
[6]Pingault V,Ente D,Dastot Le Moal F,etc.
Review and update of mutations causing Waardenburg syndrome.
[J].2010,31(4).
[7]Y, Nobukuni,A, Watanabe,K, Takeda,etc.
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
[J].1996,59(1).
WanfangData CO.,Ltd All Rights Reserved
About WanfangData
|
Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:
yiyao@wanfangdata.com.cn