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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Detalles Bibliográficos
Autores principales: Vazharova, Radoslava, Vragaleva, Svetlana, Dimitrova, Violeta, Ivanov, Samuil, Balabanski, Lubomir, Malinov, Maxim, Toncheva, Draga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
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

Internet

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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