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

• Main Authors: Radoslava Vazharova (Author), Svetlana Vragaleva (Author), Violeta Dimitrova (Author), Samuil Ivanov (Author), Lubomir Balabanski (Author), Maxim Malinov (Author), Draga Toncheva (Author)
• Format: Book
• Published: Hindawi Limited, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...