Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization
Keywords: Aromatase deficiency; CYP19A1; Virilization; Disorder of sexual development; Enzyme activity; POR; cytochrome 450 oxidoreductase; 46, XX DSD; 46, XX disorder of sexual development; ACTH; adrenocorticotropic hormone; DHEA-S; sulfated dehydroepiandrosterone