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


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… (More)
DOI: 10.1002/humu.23353


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