Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and 11 of the LMNA gene. In this study, five FPLD2-diagnosed patients carryi...

Descripción completa

Detalles Bibliográficos
Autores principales: Araújo-Vilar, David, Fernández-Pombo, Antía, Victoria, Berta, Mosquera-Orgueira, Adrián, Cobelo-Gómez, Silvia, Castro-Pais, Ana, Hermida-Ameijeiras, Álvaro, Loidi, Lourdes, Sánchez-Iglesias, Sofía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038443/
https://www.ncbi.nlm.nih.gov/pubmed/33916827
http://dx.doi.org/10.3390/jcm10071497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038443/
https://www.ncbi.nlm.nih.gov/pubmed/33916827
http://dx.doi.org/10.3390/jcm10071497

Ejemplares similares