Article
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant
17 Nov 2016
Abstract excerpt
BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. RESULTS:...
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