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Year Number of Results
2002 1
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2006 4
2007 4
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2010 6
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2012 4
2013 2
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2017 2
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2019 3
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2024 0

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PubMed (GeneRIF) for id: 23118

53 results

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Page 1
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR, van Haeringen A. Koene S, et al. Am J Med Genet A. 2022 Dec;188(12):3510-3515. doi: 10.1002/ajmg.a.62929. Epub 2022 Aug 24. Am J Med Genet A. 2022. PMID: 36000780 Free PMC article.
Expanding the phenotype of TAB2 variants and literature review.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M. Woods E, et al. Am J Med Genet A. 2022 Nov;188(11):3331-3342. doi: 10.1002/ajmg.a.62949. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35971781 Free PMC article.
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. 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 Free article.
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Eur J Hum Genet. 2021 Nov;29(11):1669-1676. doi: 10.1038/s41431-021-00948-0. Epub 2021 Aug 30. Eur J Hum Genet. 2021. PMID: 34456334 Free PMC article.
53 results