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

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.

Detalles Bibliográficos
Autores principales: Spinelli, Valentina, Girolami, Francesca, Marrone, Chiara, Consigli, Veronica, Iascone, Maria, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, De Simone, Luciano, Olivotto, Iacopo, Santoro, Giuseppe, Favilli, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752570/
https://www.ncbi.nlm.nih.gov/pubmed/33363936
http://dx.doi.org/10.1002/ccr3.3327

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752570/
https://www.ncbi.nlm.nih.gov/pubmed/33363936
http://dx.doi.org/10.1002/ccr3.3327

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