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Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA

Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are incompletely understood. Next to rare Mendelian co...

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Detalles Bibliográficos
Autores principales: Meerschaut, Ilse, Steyaert, Wouter, Bové, Thierry, François, Katrien, Martens, Thomas, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Moons, Lara, Vermassen, Petra, Symoens, Sofie, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320903/
https://www.ncbi.nlm.nih.gov/pubmed/35885997
http://dx.doi.org/10.3390/genes13071214