A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes
Makaleler > Tam Makale · 2021
Yazarlar: Aysun Ata, Samim ÖZEN, Hüseyin Onay, Selin Uzun, Damla Gökşen, Feriştah Ferda ÖZKINAY, Nazlı Burcu ÖZBARAN, İbrahim ULMAN, Şükran DARCAN
EUROPEAN JOURNAL OF MEDICAL GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2021, cilt 64, ss 104154-104154
DOI: 10.1016/j.ejmg.2021.104154
Özet
Introduction: Disorders of sex development (DSD) constitutes a group of congenital conditions that affect uro-genital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.