Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

BACKGROUND: Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated wi...

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Detalles Bibliográficos
Autores principales: Soyaltin, Utku Erdem, Simsir, Ilgin Yildirim, Akinci, Baris, Altay, Canan, Adiyaman, Suleyman Cem, Lee, Kristen, Onay, Huseyin, Oral, Elif Arioglu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362519/
https://www.ncbi.nlm.nih.gov/pubmed/32685188
http://dx.doi.org/10.1186/s40842-020-00100-9

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