Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler(Columbia University Irving Medical Center), Marianna Parlato(Université Paris Cité), Valérie Desquiret‐Dumas(Centre National de la Recherche Scientifique), Bruno Moulin, Emmanuel Mas(Université Toulouse III - Paul Sabatier), Shay Tzur(Hebrew University of Jerusalem), Nadine Cerf–Bensussan(Université Paris Cité), Thomas Haaf(Unknown), Mohammed Zarhrate(Délégation Paris 5), Nicolas Cagnard(Inserm), Katta M. Girisha(Manipal Academy of Higher Education), Laurence Faivre(Inserm), Bernadette Bègue(Délégation Paris 5), Stanislas Lyonnet(Hôpital Necker-Enfants Malades), Rémi Duclaux‐Loras(Hôpital Necker-Enfants Malades), Estelle Colin(Centre National de la Recherche Scientifique), Michael Frank(Ghent University Hospital), Barbara Vona(Broad Institute), Clarisse Billon, Frank Ruemmele(Hôpital Necker-Enfants Malades), Lynn Pais(MACOM (United States)), Pauline E. Schneeberger(Universität Hamburg), Thomas Édouard(Université Toulouse III - Paul Sabatier), Céline Revenu(Centre National de la Recherche Scientifique), Ludovic Martin(Dassault Aviation (France)), Susan M. White(The University of Melbourne), Shalini S. Nayak(Manipal Academy of Higher Education), Lyndon Gallacher(The University of Queensland), Fabienne Charbit‐Henrion(Institut des Maladies Génétiques Imagine), Ehsan Ghayoor Karimiani(St George's, University of London), Karine Duroure(Centre National de la Recherche Scientifique), Dominique Bonneau(Centre Hospitalier Universitaire d'Angers), Kerstin Kutsche(Universität Hamburg), Abolfazl Rad(Sabzevar University of Medical Sciences), George McGillivray(Murdoch Children's Research Institute), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Guy Lenaers(Inserm), Filippo Del Bene(Centre National de la Recherche Scientifique), Caroline Lekszas(University of Würzburg), Eyal Reinstein(Technion – Israel Institute of Technology), Daniel Henrion(Centre National de la Recherche Scientifique), Ruben Attali(BSD Crown (Israel)), Linda Grimaud(Centre National de la Recherche Scientifique), Anne Breton(Centre Hospitalier Universitaire de Toulouse), Anaïs Philippe(Hôpital d'Hautepierre), A.-L. Guihot(Centre National de la Recherche Scientifique), Yves Alembik(Hôpital d'Hautepierre)
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