Detalhe da pesquisa
1.
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Genet Med
; 20(7): 717-727, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261182
2.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Genet Med
; 19(4): 367-376, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490115
3.
Update on the genetics of differences of sex development (DSD).
Best Pract Res Clin Endocrinol Metab
; 33(3): 101271, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005504
4.
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
Orphanet J Rare Dis
; 9: 209, 2014 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497574