Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (pro...

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Detalles Bibliográficos
Autores principales: Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780486/
https://www.ncbi.nlm.nih.gov/pubmed/35050212
http://dx.doi.org/10.3390/jcdd9010002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780486/
https://www.ncbi.nlm.nih.gov/pubmed/35050212
http://dx.doi.org/10.3390/jcdd9010002

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