present in Gene: MIR4713HG;CYP19A1
present in Chromosome: 15
Position on Chromosome: 51211010
Alleles of this Variant: C/T
rs78310315 in
MIR4713HG;CYP19A1 gene and
Aromatase deficiency
PMID 24705274 2014 Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.
PMID 8265607 1993 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
PMID 8530621 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.
PMID 9211678 1997 Effect of testosterone and estradiol in a man with aromatase deficiency.