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BioMed Research International
Volume 2016, Article ID 8742939, 8 pages
Research Article

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

1Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain
2Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany
3Department of Health Sciences, Medical Genetics, University of Milan, 20122 Milan, Italy
4Department of Pediatrics, Pablo Tobon Uribe Hospital, 05001000 Medellín, Colombia
5Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany
6Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany

Received 3 October 2015; Accepted 16 November 2015

Academic Editor: Claude Prigent

Copyright © 2016 María E. Teresa-Rodrigo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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