PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson(Inserm), Frédéric Tran Mau‐Them(Inserm), Michelle L. Thompson(Albert Einstein College of Medicine), Valérie Cormier‐Daire(Hôpital Necker-Enfants Malades), Susan M. Hiatt(HudsonAlpha Institute for Biotechnology), Linda Zuurbier(Amsterdam Neuroscience), Paulien A. Terhal(University Medical Center Utrecht), Elizabeth Roeder(The University of Texas at San Antonio Health Science Center), Konrad Platzer(Leipzig University), Rebecca O. Littlejohn(School of the Art Institute of Chicago), Rolph Pfundt(Radboud University Nijmegen), Lynne M. Bird(University of California San Diego), Lonneke A. M. Aarts(Radboud University Nijmegen), Sourav Ghosh(Yale University), David A. Koolen(Radboud University Nijmegen), Johannes Luppe(Leipzig University), Tuula Rinne(Radboud University Nijmegen), Marja W. Wessels(Erasmus MC), Estelle Colin(Centre National de la Recherche Scientifique), Thatjana Gardeitchik(Radboud University Nijmegen), Carlo Marcelis(Radboud University Nijmegen), Dagmar Wieczorek(Düsseldorf University Hospital), Lisenka E.L.M. Vissers(Radboud University Nijmegen), Jean‐Marc Strub(Centre National de la Recherche Scientifique), Ruxandra Bachmann‐Gagescu(Life Science Zurich), Anita Rauch(University of Zurich), Reem Saadeh‐Haddad(Georgetown University), Kristy Lee(University of North Carolina at Chapel Hill), Christine Schaeffer‐Reiss(Centre National de la Recherche Scientifique), Raissa Relator(London Health Sciences Centre), Julien Paccaud(Inserm), Outi Mäkitie(University of Helsinki), Fatima El It(Inserm), Elke de Boer(Radboud University Nijmegen), María J. Guillen Sacoto, Laurence Duplomb(Inserm), Rana Halloun(Rambam Health Care Campus), Catherine Gooch(Washington University in St. Louis), Astrid S. Plomp, Jesse M. Hunter(Nationwide Children's Hospital), de Man(Amphia Ziekenhuis), Anna Hurst(University of Alabama at Birmingham), Yannis Duffourd(Inserm), Nienke E. Verbeek(University Medical Center Utrecht), Richard Person(GenVec), Khaled Osman(Rambam Health Care Campus), Mari Mori(Nationwide Children's Hospital), Martina Orefice(University of Pisa), Arjan Bouman(Erasmus MC)
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