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Article

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

International journal of molecular sciences - 28 Aug 2024

Díaz-López Everardo Josué, Sánchez-Iglesias Sofía, Castro Ana I, Cobelo-Gómez Silvia, Prado-Moraña Teresa, Araújo-Vilar David, Fernandez-Pombo Antia

Abstract excerpt

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...

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Identifiers

PMID: 39273270
DOI: 10.3390/ijms25179324
PMCID: PMC11395136

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Semantic proximity Read ↗

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