De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defec...

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Autors principals: Hilger, Alina, Schramm, Charlotte, Pennimpede, Tracie, Wittler, Lars, Dworschak, Gabriel C, Bartels, Enrika, Engels, Hartmut, Zink, Alexander M, Degenhardt, Franziska, Müller, Annette M, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Wijers, Charlotte HW, Marcelis, Carlo LM, van Rooij, Iris ALM, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831074/
https://ncbi.nlm.nih.gov/pubmed/23549274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.58
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