Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Helena Fabbri-Scallet, Maricilda Palandi de Mello^*, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Juliana Gabriel Ribeiro de Andrade, Camila Maia Costa de Queiroz, Isabella Lopes Monlleó, Dagmar Struve, Olaf Hiort, Ralf Werner