1.
JACC Case Rep
; 14: 101837, 2023 May 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37152704
RESUMO
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 infants with CHD. (Level of Difficulty: Advanced.).