Loss-of-function Variants in Exon 4 of TAB2 Cause a Recognizable Multisystem Disorder with Cardiovascular, Facial, Cutaneous, and Musculoskeletal Involvement Lucia Micale , Silvia Morlino , Annalucia Carbone , Annamaria Carissimo , Grazia Nardella , Carmela Fusco , Orazio Palumbo , Annalisa Schirizzi , Federica Russo , Gianluigi Mazzoccoli , Jeroen Breckpot , Chiara De Luca , Alessandro Ferraris , Cecilia Giunta , Paola Grammatico , Maria K. Haanpaa , Giorgia Mancano , Giulia Forzano , Davide Cacchiarelli , Hilde Van Esch , Bert Callewaert , Marianne Rohrbach , Marco Castori GENETICS IN MEDICINE（2022）
关键词
Congenital heart defect, Connective tissue, Ehlers-Danlos syndrome, Osteoblast, TAK1
AI 理解论文
溯源树
样例
