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

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

Abstract 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.

Bibliographic Details
Main Authors: Valentina Spinelli, Francesca Girolami, Chiara Marrone, Veronica Consigli, Maria Iascone, Silvia Passantino, Giulio Porcedda, Giovanni Battista Calabri, Luciano De Simone, Iacopo Olivotto, Giuseppe Santoro, Silvia Favilli
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Clinical Case Reports
Subjects:
Alström syndrome
dilated cardiomyopathy
next generation sequencing
Online Access:https://doi.org/10.1002/ccr3.3327

Internet

https://doi.org/10.1002/ccr3.3327

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