Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
TAB2 外显子 4 的功能丧失变异会导致可识别的多系统疾病，累及心血管、面部、皮肤和肌肉骨骼
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2021.10.009
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 Haanpää, Giorgia Mancano, Gi
