A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia

The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during...

全面介紹

書目詳細資料

Principais autores:	Meng-Che Tsai, Yen-Yin Chou, Shio-Jean Lin, Li-Ping Tsai
格式:	Artigo
語言:	Inglês
出版:	Wiley 2012-04-01
叢編:	Kaohsiung Journal of Medical Sciences
主題:	5α-reductase type 2 deficiency Gender Gene mutation Infant Sex development
在線閱讀:	http://www.sciencedirect.com/science/article/pii/S1607551X11002348
標簽:	添加標簽 沒有標簽, 成為第一個標記此記錄!