Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Edip UnalMeliha DemiralRuken YıldırımFunda Feryal TaşSerdar CeylanerMehmet Nuri ÖzbekPublished in: Hormones (Athens, Greece) (2020)
We detected a novel variant in the POR gene in two sibling cases with adrenal insufficiency, dysmorphic face, and mild skeletal findings. While the detected mutation caused ambiguous genitalia in the female case, it did not cause ambiguous genitalia in the male case.