Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

• Үндсэн зохиолчид: Radoslava Vazharova (Зохиогч), Svetlana Vragaleva (Зохиогч), Violeta Dimitrova (Зохиогч), Samuil Ivanov (Зохиогч), Lubomir Balabanski (Зохиогч), Maxim Malinov (Зохиогч), Draga Toncheva (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Hindawi Limited, 2016-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of...