A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis.
- Author:
Xiao-Bo WANG
1
;
Yu-Long LIANG
2
;
Zi-Jue ZHU
1
;
Yong ZHU
1
;
Peng LI
1
;
Jia-Ping CAO
2
;
Qun-Ying ZHANG
2
;
Qiang LIU
3
;
Zheng LI
1
Author Information
- Publication Type:Research Support, Non-U.S. Gov't
- MeSH: Adult; Animals; Female; Frameshift Mutation/genetics*; Genes, sry; Gonadal Dysgenesis, 46,XY/genetics*; Humans; Menarche; Ovary/pathology*; Oviducts/pathology*; Sex-Determining Region Y Protein/genetics*
- From: Asian Journal of Andrology 2019;21(5):522-524
- CountryChina
- Language:English