Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.

@article{He2004PreimplantationGD,
  title={Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.},
  author={Jie He and Deborah A. McDermott and Yan Shuang Song and Fred Gilbert and Isaac Kligman and Craig Todd Basson},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={126A 1},
  pages={93-8}
}
Holt-Oram syndrome (HOS) is a multiple malformation syndrome associated with congenital heart malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been… CONTINUE READING

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