GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

• Main Authors: Nurullah Çelik (Author), Hande Küçük Kurtulgan (Author), Fatih Kılıçbay (Author), Gaffari Tunç (Author), Ayça Kömürlüoğlu (Author), Onur Taşçı (Author), Cemile Ece Çağlar Şimşek (Author), Taha Çınar4 (Author), Yeşim Sıdar Duman (Author)
• 格式: 图书
• 出版: Galenos Yayincilik, 2022-12-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two cop...