Cargando…
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical characterisation of this syndrome in order to bette...
Autores principales: | Fernandez-Pombo, Antia, Diaz-Lopez, Everardo Josue, Castro, Ana I., Sanchez-Iglesias, Sofia, Cobelo-Gomez, Silvia, Prado-Moraña, Teresa, Araujo-Vilar, David |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000975/ https://www.ncbi.nlm.nih.gov/pubmed/36899861 http://dx.doi.org/10.3390/cells12050725 |
Ejemplares similares
-
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
por: Fernández-Pombo, Antía, et al.
Publicado: (2023) -
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene
por: Araújo-Vilar, David, et al.
Publicado: (2021) -
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant
por: Araújo-Vilar, David, et al.
Publicado: (2021) -
Partial Lipodystrophy and LMNA p.R545H Variant
por: Magno, Silvia, et al.
Publicado: (2021) -
Metreleptin therapy in LMNA-linked lipodystrophies
por: Vatier, Camille, et al.
Publicado: (2015)