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Genetic etiology of cardiac syndromes

  • Mary Ella M. Pierpont

Research output: Contribution to journalArticlepeer-review

Abstract

In recent years, our understanding of the genetic basis of some syndromes, haploinsufficiency states, and cardiac abnormalities has been advanced through the use of new molecular genetic techniques. A number of these conditions with cardiac disease will be reviewed.

Original languageEnglish (US)
Pages (from-to)29-41
Number of pages13
JournalProgress in Pediatric cardiology
Volume6
Issue number1
DOIs
StatePublished - Aug 1996
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by the Ray and Hattie Anderson Center for the Study of Hereditary Cardiac Disease and by the Variety Club of the Northwest Gunshoots Program. Fig. 4 was kindly provided by Dr. Betsy Hirsch of the Cytogenetics Laboratory, University of Minnesota.

Keywords

  • Alagille syndrome
  • Cri-du-chat syndrome
  • Familial heterotaxy syndrome
  • Familial supravalvular aortic stenosis
  • Holt-Oram syndrome
  • Noonan syndrome
  • Rubinstein-Taybi syndrome
  • Total anomalous pulmonary venous return
  • Turner syndrome
  • Williams syndrome
  • Wolf-Hirschhorn syndrome

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