Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Titel:
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Auteur:
Ziegler, Alban Duclaux-Loras, Rémi Revenu, Céline Charbit-Henrion, Fabienne Begue, Bernadette Duroure, Karine Grimaud, Linda Guihot, Anne Laure Desquiret-Dumas, Valérie Zarhrate, Mohammed Cagnard, Nicolas Mas, Emmanuel Breton, Anne Edouard, Thomas Billon, Clarisse Frank, Michael Colin, Estelle Lenaers, Guy Henrion, Daniel Lyonnet, Stanislas Faivre, Laurence Alembik, Yves Philippe, Anaïs Moulin, Bruno Reinstein, Eyal Tzur, Shay Attali, Ruben McGillivray, George White, Susan M. Gallacher, Lyndon Kutsche, Kerstin Schneeberger, Pauline Girisha, Katta M. Nayak, Shalini S. Pais, Lynn Maroofian, Reza Rad, Aboulfazl Vona, Barbara Karimiani, Ehsan Ghayoor Lekszas, Caroline Haaf, Thomas Martin, Ludovic Ruemmele, Frank Bonneau, Dominique Cerf-Bensussan, Nadine Del Bene, Filippo Parlato, Marianna