Detalhe da pesquisa
1.
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
BMC Med Genet
; 15: 7, 2014 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24405868
2.
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Int J Mol Sci
; 12(12): 9471-80, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22272144
3.
A study of splicing mutations in disorders of sex development.
Sci Rep
; 7(1): 16202, 2017 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29176693