Article
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Human mutation - 1 Jan 2018
Fabbri-Scallet Helena, de Mello Maricilda Palandi, Guerra-Júnior Gil, Maciel-Guerra Andréa Trevas, de Andrade Juliana Gabriel Ribeiro, de Queiroz Camila Maia Costa, Monlleó Isabella Lopes, Struve Dagmar, Hiort Olaf, Werner Ralf
Abstract excerpt
Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorders of sex development (DSD) can be associated with a range of conditions of phenotypes; however, the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants...
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