Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review
Edip Ünal, Meliha Demiral, Ruken Yıldırım, Funda Feryal Taş, Serdar Ceylaner, Mehmet Nuri Özbek
Topics & Concepts
Congenital adrenal hyperplasiaSiblingMedicineEndocrinologyBasal (medicine)Internal medicineDeformityLabiaSurgeryPsychologyDevelopmental psychologyInsulinSexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesPharmacogenetics and Drug Metabolism