Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Alban Ziegler, Rémi Duclaux‐Loras, Céline Revenu, Fabienne Charbit‐Henrion, Bernadette Bègue, Karine Duroure, Linda Grimaud, A.-L. Guihot, Valérie Desquiret‐Dumas, Mohammed Zarhrate, Nicolas Cagnard, Emmanuel Mas, Anne Breton, Thomas Édouard, Clarisse Billon, Michael Frank, Estelle Colin, Guy Lenaers, Daniel Henrion, Stanislas Lyonnet, Laurence Faivre, Yves Alembik, Anaïs Philippe, Bruno Moulin, Eyal Reinstein, Shay Tzur, Ruben Attali, George McGillivray, Susan M. White, Lyndon Gallacher, Kerstin Kutsche, Pauline E. Schneeberger, Katta M. Girisha, Shalini S. Nayak, Lynn Pais, Reza Maroofian, Abolfazl Rad, Barbara Vona, Ehsan Ghayoor Karimiani, Caroline Lekszas, Thomas Haaf, Ludovic Martin, Frank Ruemmele, Dominique Bonneau, Nadine Cerf–Bensussan, Filippo Del Bene, Marianna Parlato