A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes
Aysun Ata, Samim Özen, Hüseyin Önay, Selin Uzun, Damla Gökşen, Ferda Özkınay, Nazlı Özbaran, İbrahim Ulman, Şükran Darcan
Topics & Concepts
Gonadal dysgenesisDisorders of sex developmentCYP17A1Klinefelter syndromeTurner syndromeInternal medicineTestis determining factorDysgerminomaBiologyEndocrinologyMedicineGeneticsPediatricsGynecologyGeneOvaryY chromosomeSexual Differentiation and DisordersUrological Disorders and TreatmentsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities