Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

IntroductionInherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked de novo patho...

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Bibliographic Details
Main Authors: José L. Santos, José Patricio Miranda, Carlos F. Lagos, Víctor A. Cortés
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Genetics
Subjects:
lipodystrophy
LMNA
de novo
exome
pathogenic mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1468878/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1468878/full

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