De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
About this item
Full title
Author / Creator
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 and Draaken, Markus
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 defects (L). We aimed to identify highly penetrant de n...
Alternative Titles
Full title
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3831074
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3831074
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.58
