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Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome

Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report on two brothers, 2 and 3 years of age, diagnosed with Alström syndrome who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disea...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Mahamid, Jamal, Lorber, Avraham, Horovitz, Yoseph, Shalev, Stavit A, Collin, Gayle B, Naggert, Jürgen K, Marshall, Jan D, Spiegel, Ronen
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3779600/
https://ncbi.nlm.nih.gov/pubmed/22447358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00246-012-0296-6
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