Position effects at the FGF8 locus are associated with femoral hypoplasia |
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| Authors: | Magdalena Socha,Anna Sowiń ska-Seidler,Uirá Souto Melo,Bjø rt K. Kragesteen,Martin Franke,Verena Heinrich,Robert Schö pflin,Inga Nagel,Nicolas Gruchy,Stefan Mundlos,Varun K.A. Sreenivasan,Cristina Ló pez,Martin Vingron,Ewelina Bukowska-Olech,Malte Spielmann,Aleksander Jamsheer |
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| Affiliation: | 1. Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland;2. Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany;3. Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany;4. Department of Immunology, Weizmann Institute of Science, Rehovot 76100, Israel;5. Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas/Universidad Pablo de Olavide, Seville 41013, Spain;6. Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany;7. Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel 24105, Germany;8. Department of Genetics, EA7450 BioTARGen, Normandie Université, UNICAEN, CHU de Caen Normandie, Caen 14000, France;9. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, Berlin 13353, Germany;10. Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Lübeck and University of Lübeck, Lübeck 23562, Germany;11. Institut d’Investigacions Biomèdiques August Pi i Sunyer, Ciber de Cáncer, Barcelona, Spain;12. Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain;13. Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany;14. Centers for Medical Genetics GENESIS, Poznan 60-529, Poland |
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| Abstract: | |
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| Keywords: | TADs position effects FGF8 non-coding mutations femoral hypoplasia enhancer |
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