Renata Thomazini Dallago, Rafael Loch Batista, Berenice Bilharinho de Mendonça, Vania dos Santos Nunes Nogueira
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The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocol
Introduction Disorders of sex development (DSDs) were defined as congenital conditions in which the development of chromosomal, gonadal and anatomic sex is atypical. Nuclear receptor subfamily 5 group A member 1 (NR5A1), previously known as steroidogenic factor 1 (SF1) plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, adrenal and gonadal development, and reproduction. NR5A1 emerged to be causative of 10 to 20% of 46,XY DSD.
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