[HTML][HTML] A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
I Gutierrez-Roelens, LD Roy, C Ovaert… - European journal of …, 2006 - nature.com
I Gutierrez-Roelens, LD Roy, C Ovaert, T Sluysmans, K Devriendt, HG Brunner, M Vikkula
European journal of human genetics, 2006•nature.comThe prevalence of congenital heart defects is approximately 1% of all live births. Identifying
the genes responsible for cardiac malformation is the first step to understand pathogenesis.
Heterozygous mutations in the CSX/NKX2-5 (NKX2E) gene have been identified to cause
atrial septal defect (ASD) and/or atrioventricular (AV) conduction disturbance in some
families. However, there is great variability in expressivity of the phenotype between the
patients with a CSX/NKX2-5 mutation.
the genes responsible for cardiac malformation is the first step to understand pathogenesis.
Heterozygous mutations in the CSX/NKX2-5 (NKX2E) gene have been identified to cause
atrial septal defect (ASD) and/or atrioventricular (AV) conduction disturbance in some
families. However, there is great variability in expressivity of the phenotype between the
patients with a CSX/NKX2-5 mutation.
Abstract
The prevalence of congenital heart defects is approximately 1% of all live births. Identifying the genes responsible for cardiac malformation is the first step to understand pathogenesis. Heterozygous mutations in the CSX/NKX2-5 (NKX2E) gene have been identified to cause atrial septal defect (ASD) and/or atrioventricular (AV) conduction disturbance in some families. However, there is great variability in expressivity of the phenotype between the patients with a CSX/NKX2-5 mutation.
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