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

• Главные авторы: Radoslava Vazharova (Автор), Svetlana Vragaleva (Автор), Violeta Dimitrova (Автор), Samuil Ivanov (Автор), Lubomir Balabanski (Автор), Maxim Malinov (Автор), Draga Toncheva (Автор)
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• Опубликовано: Hindawi Limited, 2016-01-01T00:00:00Z.
• Предметы: article
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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...