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, Lucia; Morlino, Silvia; Carbone, Annalucia; Carissimo, Annamaria; Nardella, Grazia; Fusco, Carmela; Palumbo, Orazio; Schirizzi, Annalisa; Russo, Federica; Mazzoccoli, Gianluigi; Breckpot, Jeroen; De Luca, Chiara; Ferraris, Alessandro; Giunta, Cecilia; Grammatico, Paola; Haanpää, Maria K; Mancano, Giorgia; Forzano, Giulia; Cacchiarelli, Davide; Van Esch, Hilde; Callewaert, Bert; Rohrbach, Marianne; Castori, Marco. - 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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