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

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...

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Bibliographic Details
Main Authors: Radoslava Vazharova, Svetlana Vragaleva, Violeta Dimitrova, Samuil Ivanov, Lubomir Balabanski, Maxim Malinov, Draga Toncheva
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2016/1462818