Condition: 46,XX SEX REVERSAL 4
rs104894119 in
NR5A1 gene and
46,XX SEX REVERSAL 4
PMID 27855412 2017 A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
PMID 27490115 2017 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
PMID 27610946 2017 Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
PMID 27378692 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.