Biallelic loss of function variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities and immune dysregulation Alban Ziegler , Remi Duclaux-Loras , Celine Revenu , Bernadette Begue , Karine Duroure , Linda Grimaud , Anne Laure Guihot , Valerie Desquiret Dumas , Mohammed Zarhrate , Emmanuel Mas , Anne Breton , Thomas Edouard Edouard , Clarisse Billon , Michael Frank , Estelle Colin , Guy Lenaers , Daniel Henrion Henrion , Stanislas Lyonnet , Laurence Faivre , Yves Alembik , Anais Philippe , Bruno Moulin , Eyal Reinstein Reinstein , Shay Tzur , Ruben Attali , George McGillivray , Susan M. White , Lyndon Gallacher , Kerstin Kutsche , Pauline Schneeberger , Katta M. Girisha , Shalini S. Nayak , Lynn Pais , Reza Maroofian , Barbara Vona Vona , Ehsan Ghayoor Karmiani Karmiani , Caroline Lekszas Lekszas , Thomas Haaf , Ludovic Martin , Frank Ruemmele , Dominique Bonneau , Nadine Cerf-Bensussan , Filippo Del Bene Del Bene , Marianna Parlato EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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