Condition: HETEROTAXY, VISCERAL, 1, X-LINKED


rs1531070 in MAML3 gene and HETEROTAXY, VISCERAL, 1, X-LINKED PMID 23708190 2013 A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.

rs104894961 in ZIC3 gene and HETEROTAXY, VISCERAL, 1, X-LINKED PMID 18716025 2008 Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.

PMID 14681828 2004 Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

PMID 17295247 2007 Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

PMID 9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.

PMID 17764085 2008 Characterization of the interactions of human ZIC3 mutants with GLI3.

PMID 24123890 2014 Genetic and functional analyses of ZIC3 variants in congenital heart disease.