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A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BACKGROUND: TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variants within...

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Detalles Bibliográficos
Autores principales:	Chen, Jia, Yuan, Huizhen, Xie, Kang, Wang, Xinrong, Tan, Linglong, Zou, Yongyi, Yang, Yan, Pan, Lu, Xiao, Junfang, Chen, Ge, Liu, Yanqiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6971906/ https://www.ncbi.nlm.nih.gov/pubmed/31959127 http://dx.doi.org/10.1186/s12872-019-01322-1

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