A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing in...

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Detalles Bibliográficos
Autores principales: McKinney, Lauren M., Clark, Mariah C., Ellis, Alexander R., Schrier Vergano, Samantha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157145/
https://www.ncbi.nlm.nih.gov/pubmed/37152704
http://dx.doi.org/10.1016/j.jaccas.2023.101837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157145/
https://www.ncbi.nlm.nih.gov/pubmed/37152704
http://dx.doi.org/10.1016/j.jaccas.2023.101837

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