Two unrelated undervirilized 46,XY males with inherited NR5A1 variants identified by whole exome sequencing

Por Swartz, Jonathan M, Ciarlo, Ryan, Guo, Michael H, Abrha, Aser, Diamond, David A, Chan, Yee-Ming, Hirschhorn, Joel N
Publicado no Horm Res Paediatr (2016)

A 46,XX ovotesticular disorder of sex development likely caused by a SF-1 (NR5A1) variant

Por Swartz, Jonathan M, Ciarlo, Ryan, Guo, Michael H, Abrha, Aser, Weaver, Benjamin, Diamond, David A, Chan, Yee-Ming, Hirschhorn, Joel N
Publicado no Horm Res Paediatr (2016)