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Article

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

21 Aug 2003

Abstract excerpt

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...

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Share to Congenital Anomalies and Fetal Surgery
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PMID: 15039979
DOI: 10.1002/ajmg.a.20487

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