A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene
International Journal of Cardiology(2016)
摘要
a Department of Cardiology, La Timone Hospital, Aix-Marseille Universite, Marseille, France b Department of Cardiac Surgery, La Timone Hospital, Aix-Marseille Universite, Marseille, France c Department of Pathology, La Timone Hospital, Aix-Marseille Universite, Marseille, France d Department of Medical Genetics, La Timone Hospital, Aix Marseille Universite, INSERM, GMGF UMR S 910, 13385 Marseille, France
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关键词
Cardiomyopathy,Transplantation,Genetic testing,Laminopathy
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