Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype

Parween, S; Fernandez-Cancio, M; Benito-Sanz, S; Camats, N; Velazquez, MNR; Lopez-Siguero, JP; Udhane, SS; Kagawa, N; Fluck, CE; Audi, L; Pandey, AV

Pandey, AV (corresponding author), Univ Childrens Hosp, Pediat Endocrinol Diabetol & Metab, Freiburgstr 15, CH-3010 Bern, Switzerland.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2020; 105 (4):

Abstract

Context: Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in P......

Full Text Link