Open AccessMolecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype
Author(s) -
Shaheena Parween,
Mónica FernándezCancio,
Sara BenitoSanz,
Núria Camats,
Maria Natalia Rojas Velazquez,
JuanPedro LópezSiguero,
Sameer S. Udhane,
Norio Kagawa,
Christa E. Flück,
Laura Audı́,
Amit V. Pandey
Publication year - 2020
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/clinem/dgaa076
Subject(s) - phenotype , mutation , genetics , clinical phenotype , medicine , biology , gene
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.
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