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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474543/
https://www.ncbi.nlm.nih.gov/pubmed/32913962
http://dx.doi.org/10.1210/jendso/bvaa108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474543/
https://www.ncbi.nlm.nih.gov/pubmed/32913962
http://dx.doi.org/10.1210/jendso/bvaa108

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