Ontology highlight
ABSTRACT:
SUBMITTER: Hilger A
PROVIDER: S-EPMC3831074 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Hilger Alina A Schramm Charlotte C Pennimpede Tracie T Wittler Lars L Dworschak Gabriel C GC Bartels Enrika E Engels Hartmut H Zink Alexander M AM Degenhardt Franziska F Müller Annette M AM Schmiedeke Eberhard E Grasshoff-Derr Sabine S Märzheuser Stefanie S Hosie Stuart S Holland-Cunz Stefan S Wijers Charlotte H W CH Marcelis Carlo L M CL van Rooij Iris A L M IA Hildebrandt Friedhelm F Herrmann Bernhard G BG Nöthen Markus M MM Ludwig Michael M Reutter Heiko H Draaken Markus M
European journal of human genetics : EJHG 20130403 12
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 novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 pati ...[more]