Expanding the phenotype of TAB2 variants and literature review

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this. Here we describe 14...

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Detalles Bibliográficos
Autores principales: Woods, Emily, Marson, Imogen, Coci, Emanuele, Spiller, Michael, Kumar, Ajith, Brady, Angela, Homfray, Tessa, Fisher, Richard, Turnpenny, Peter, Rankin, Julia, Kanani, Farah, Platzer, Konrad, Ververi, Athina, Emmanouilidou, Eleftheria, Bourboun, Nourxan, Giannakoulas, George, Balasubramanian, Meena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Orignal Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804770/
https://www.ncbi.nlm.nih.gov/pubmed/35971781
http://dx.doi.org/10.1002/ajmg.a.62949

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