TY  - JOUR
AU  - Parween, Shaheena
AU  - Fernández-Cancio, Mónica
AU  - Benito-Sanz, Sara
AU  - Camats, Núria
AU  - Rojas Velazquez, Maria Natalia
AU  - López-Siguero, Juan-Pedro
AU  - Udhane, Sameer S
AU  - Kagawa, Norio
AU  - Flück, Christa E
AU  - Audí, Laura
AU  - Pandey, Amit V
PY  - 2020
DO  - 10.1210/clinem/dgaa076
UR  - http://hdl.handle.net/10668/15112
T2  - The Journal of clinical endocrinology and metabolism
AB  - Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a 46,XX patient with signs of aromatase deficiency. Analysis of aromatase deficiency from the...
LA  - en
KW  - CY19A1
KW  - CYP17A1
KW  - CYP21A2
KW  - POR
KW  - PORD
KW  - congenital adrenal hyperplasia
KW  - 46, XX Disorders of Sex Development
KW  - Adrenal Hyperplasia, Congenital
KW  - Aromatase
KW  - Child
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Prognosis
TI  - Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
TY  - research article
VL  - 105
ER  -