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A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis.

Valentina SpinelliFrancesca GirolamiChiara MarroneVeronica ConsigliMaria IasconeSilvia PassantinoGiulio PorceddaGiovanni Battista CalabriLuciano De SimoneIacopo OlivottoGiuseppe SantoroSilvia Favilli
Published in: Clinical case reports (2020)
Genetic investigation of early-onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.
Keyphrases
  • early onset
  • rare case
  • genome wide
  • copy number
  • late onset
  • heart failure
  • dna methylation
  • case report
  • young adults
  • gene expression
  • single molecule
  • human immunodeficiency virus