Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes
Everardo Josué Díaz-López,
Sofía Sánchez-Iglesias,
Ana I. Castro
et al.
Abstract:Lipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific of each of these disorders. The most fascinating traits include their complex genotype-phenotype associations and clinical heterogeneity, ranging from Dunnigan disease, in which the most relevant feature is precisely adipose tissue dysfunction and lipodystrophy, to… Show more
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