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Article

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.

Ageing research reviews - 1 Mar 2018

Cenni Vittoria, D'Apice Maria Rosaria, Garagnani Paolo, Columbaro Marta, Novelli Giuseppe, Franceschi Claudio, Lattanzi Giovanna

Abstract excerpt

Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone abnormalities including localized osteolysis and generalized osteoporosis, skin pigmentation, lipodystrophic signs and mildly accelerated ageing. The molecular defects associated with MAD are mutations in LMNA or ZMPSTE24 (FACE1) gene, causing type A or type B MAD, respectively. Downstream of LMNA or ZMPSTE24 mutations, the lamin A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29208544
DOI: 10.1016/j.arr.2017.12.001

Genes

LMNA
ZMPSTE24
POLD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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