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The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

Tyler A FickDaryl A ScottPhilip J LupoJustin WeigandShaine Alaine Morris
Published in: Cardiology in the young (2021)
Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.
Keyphrases
  • copy number
  • case report
  • single cell
  • gene expression
  • dna methylation