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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L. Douglas, Danielle C. Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach, Caroline Nava, Genevive Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gulen Eda Utine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix
*Corresponding author for this work
- University of Ottawa
- McGill University
- Department of Clinical Genetics
- University of Sao Paulo
- Clinical Genetics
- Hospital Universitario Cruces
- Département de Genetique
- Université Paris Descartes
- Charite - Universitatsmedizin Berlin
- Department of Clinical Genetics and the Spires Cleft Lip and Palate Centre
- Department of Cardiovascular Medicine
- University of Kiel
- Department of Pediatrics
- Hacettepe University
- Pediatric Genetics Unit
- Acibadem University
- Wolfson Medical Center
- University of Freiburg
- Kaiser Permanente
- Institut fur Humangenetik
- University of Duisburg-Essen
- University of Regensburg
- Ottawa Hospital Research Institute
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(Scopus)