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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...
Autores principales: | Vazharova, Radoslava, Vragaleva, Svetlana, Dimitrova, Violeta, Ivanov, Samuil, Balabanski, Lubomir, Malinov, Maxim, Toncheva, Draga |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011510/ https://www.ncbi.nlm.nih.gov/pubmed/27642530 http://dx.doi.org/10.1155/2016/1462818 |
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