Cargando…
The importance of copy number variation in congenital heart disease
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust...
Autores principales: | Costain, Gregory, Silversides, Candice K, Bassett, Anne S |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505728/ https://www.ncbi.nlm.nih.gov/pubmed/28706735 http://dx.doi.org/10.1038/npjgenmed.2016.31 |
Ejemplares similares
-
Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
por: Silversides, Candice K., et al.
Publicado: (2012) -
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects
por: Saacks, Nicole A., et al.
Publicado: (2022) -
Copy number variation-associated lncRNAs may contribute to the etiologies of congenital heart disease
por: Lu, Yibo, et al.
Publicado: (2023) -
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
por: Costain, Gregory, et al.
Publicado: (2019) -
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome
por: Meerschaut, Ilse, et al.
Publicado: (2021)