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

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 lipodystrophy. The...

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Foilsithe in:J Endocr Soc
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2020
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7474543/
https://ncbi.nlm.nih.gov/pubmed/32913962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa108
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