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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Case Report
Acesso em linha: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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