Condition: PREMATURE OVARIAN FAILURE 7 (disorder)
rs104894118
in
NR5A1
gene and
PREMATURE OVARIAN FAILURE 7 (disorder)
PMID 11038323
2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
PMID 26523528
2016 Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
PMID 19246354
2009 Mutations in NR5A1 associated with ovarian insufficiency.