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A novel mutation of AMHR2 in two siblings with persistent müllerian duct syndrome

Ünal, Edip; Yıldırım, Ruken; Tekin, Suat; Demir, Vasfiye; Onay, Hüseyin; Haspolat, Yusuf Kenan (Galenos Yayınevi, 2018)

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype ...