Partial Lipodystrophy and LMNA p.R545H Variant

Partial Lipodystrophy and LMNA p.R545H Variant

Laminopathies are disorders caused by <i>LMNA</i> gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been...

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Bibliographic Details
Main Authors: Silvia Magno, Giovanni Ceccarini, Andrea Barison, Iacopo Fabiani, Alessandro Giacomina, Donatella Gilio, Caterina Pelosini, Anna Rubegni, Michele Emdin, Gian Luca Gatti, Filippo Maria Santorelli, Maria Rita Sessa, Ferruccio Santini
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Journal of Clinical Medicine
Subjects:
lipodystrophy
familial partial lipodystrophy type 2
FPLD2
leptin
<i>LMNA</i> mutation
Online Access:https://www.mdpi.com/2077-0383/10/5/1142

Internet

https://www.mdpi.com/2077-0383/10/5/1142

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