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

@article{Ware2004IdentificationAF,
  title={Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.},
  author={S. Ware and Jianlan Peng and Lirong Zhu and S. Fernbach and S. Colicos and B. Casey and J. Towbin and J. Belmont},
  journal={American journal of human genetics},
  year={2004},
  volume={74 1},
  pages={
          93-105
        }
}
Mutations in the zinc finger transcription factor ZIC3 cause X-linked heterotaxy and have also been identified in patients with isolated congenital heart disease (CHD). To determine the relative contribution of ZIC3 mutations to both heterotaxy and isolated CHD, we screened the coding region of ZIC3 in 194 unrelated patients, including 61 patients with classic heterotaxy, 93 patients with heart defects characteristic of heterotaxy, and 11 patients with situs inversus totalis. Five novel ZIC3… Expand
Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects
Molecular genetics of heterotaxy syndromes
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 29 REFERENCES
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
X-linked situs abnormalities result from mutations in ZIC3
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
...
1
2
3
...