A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis
oleh: 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 |
|---|---|
| Diterbitkan: | Wiley 2020-12-01 |
Deskripsi
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.