Full Author : ['Ziegler, Alban', 'Duclaux-Loras, Remi', 'Revenu, Celine', 'Charbit-Henrion, Fabienne', 'Begue, Bernadette', 'Duroure, Karine', 'Grimaud, Linda', 'Guihot, Anne Laure', 'Desquiret-Dumas, Valerie', '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, Anais', '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']
Journal Title : American journal of human genetics
Chapter : Section8
Journal Year : 2021
Dysregulated transforming growth factor TGF-beta signaling underlies the pathogenesis of genetic disorders affecting the connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who p.....
