Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation

Abstract Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystr...

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Veröffentlicht in:	Journal of the Endocrine Society 2020-10, Vol.4 (10)
Hauptverfasser:	Magno, Silvia, Ceccarini, Giovanni, Pelosini, Caterina, Ferrari, Federica, Prodam, Flavia, Gilio, Donatella, Maffei, Margherita, Sessa, Maria Rita, Barison, Andrea, Ciccarone, Annamaria, Emdin, Michele, Aimaretti, Gianluca, Santini, Ferruccio
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Genes Genetic aspects Genetic screening Health aspects Heart diseases Kidney diseases Lipodystrophy Pharmaceutical industry
Online-Zugang:	Volltext
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