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 MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.
Micale L, et al. Among authors: haanpaa mk.
Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906501
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