A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis-Reference-Cited by-同舟云学术

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

Published:2020-10-27 Issue:12 Volume:8 Page:3368-3372
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Spinelli Valentina¹,Girolami Francesca¹^ORCID,Marrone Chiara²,Consigli Veronica²,Iascone Maria³,Passantino Silvia¹,Porcedda Giulio¹,Calabri Giovanni Battista¹,De Simone Luciano¹,Olivotto Iacopo⁴,Santoro Giuseppe²,Favilli Silvia¹

Affiliation:

1. Cardiology Unit Meyer Children's Hospital Florence Italy

2. Department of Cardiology Fondazione Toscana Gabriele Monasterio Massa Italy

3. Department of Genetics ASST Papa Giovanni XXIII Bergamo Italy

4. Cardiomyopathy Unit University of Florence Florence Italy

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3327

Reference21 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence‐Moon‐Bardet‐Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree;Alström CH;Acta Psychiatr Neurol Scand Suppl,1959

2. Alstrom Syndrome: Genetics and Clinical Overview

3. Alström Syndrome: Mutation Spectrum ofALMS1

4. ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits

5. Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

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1. Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis;Journal of Medical Genetics;2023-06-15

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