Dataset Information

A rare case of pediatric cardiomyopathy: Alstrom 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.

SUBMITTER: Spinelli V

PROVIDER: S-EPMC7752570 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Spinelli Valentina V Girolami Francesca F Marrone Chiara C Consigli Veronica V Iascone Maria M Passantino Silvia S Porcedda Giulio G Calabri Giovanni Battista GB De Simone Luciano L Olivotto Iacopo I Santoro Giuseppe G Favilli Silvia S

Clinical case reports 20201027 12

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. ...[more]

PMID: 33363936

Dataset Information

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

Publications

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

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