Condition: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
rs104893900
in
NKX2-5
gene and
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
PMID 14607454
2003 NKX2.5 mutations in patients with congenital heart disease.
PMID 15342699
2004 Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
PMID 10587520
1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
PMID 15810002
2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
PMID 9651244
1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.
PMID 15689439
2005 Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.
PMID 10948187
2000 Functional analyses of three CsxNkx-2.5 mutations that cause human congenital heart disease.
PMID 21561848
2011 Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.