A novel large deletion of the ICR1 region including H19 and putative enhancer elements.

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🔗 View Article (PMC 4630834)

Published in BMC Med Genet on May 06, 2015

Authors

Helen Fryssira1, Stella Amenta2, Deniz Kanber3, Christalena Sofocleous4, Evangelia Lykopoulou5, Christina Kanaka-Gantenbein6, Flavia Cerrato7, Hermann-Josef Lüdecke8, Susanne Bens9, Andrea Riccio10, Karin Buiting11

Author Affiliations

1: Aghia Sophia Children's Hospital, University of Athens Medical School, Athens, Goudi, 11527, Greece. efrysira@yahoo.gr.
2: Mitera Maternity Hospital, Athens, Greece. amenta@hol.gr.
3: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. deniz.kanber@uni-due.de.
4: Aghia Sophia Children's Hospital, University of Athens Medical School, Athens, Goudi, 11527, Greece. csofokl@med.uoa.gr.
5: First Pediatric Clinic, Aghia Sophia" Children's Hospital, University of Athens School of Medicine, Athens, Greece. lilialykopoulou@gmail.com.
6: First Pediatric Clinic, Aghia Sophia" Children's Hospital, University of Athens School of Medicine, Athens, Greece. c.kanaka-gantenbein@med.uoa.gr.
7: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, DiSTABiF, 2nd University of Naples, Naples, Italy. flavia.cerrato@unima2.it.
8: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. Hermann-josef.luedecke@uni-due.de.
9: Institute of Human Genetics, University Hospital Schleswig-Hostein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany. sbens@medgen.uni-kiel.de.
10: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, DiSTABiF, 2nd University of Naples, Naples, Italy. andrea.riccio@unima2.it.
11: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. Karin.buiting@uni-due.de.

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