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Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Stefania LenarduzziBeatrice SpedicatiBeatrice AlessandriniPaola TesolinAlessia PaldinoMarta GigliGianfranco SinagraPaolo GaspariniMatteo Dal FerroGiorgia Girotto
Published in: Molecular genetics & genomic medicine (2023)
This study highlights the importance of a multi-step approach (WES and MLPA) to characterize hereditary cardiovascular diseases, provides crucial information for clinical management and recurrence risk estimation, and lays the foundation for future personalized therapies.
Keyphrases
  • cardiovascular disease
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • type diabetes
  • cardiovascular risk factors