This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement / Micale, L., Morlino, S., Carbone, A., Carissimo, A., Nardella, G., Fusco, C., Palumbo, O., Schirizzi, A., Russo, F., Mazzoccoli, G., Breckpot, J., De Luca, C., Ferraris, A., Giunta, C., Grammatico, P., Haanpää, M.K., Mancano, G., Forzano, G., Cacchiarelli, D., Van Esch, H., et al.. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - 24:2(2022), pp. 439-453. [10.1016/j.gim.2021.10.009]
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
Carissimo, Annamaria;Cacchiarelli, Davide;
2022
Abstract
This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2.| File | Dimensione | Formato | |
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