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Article

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

Bone - 1 Sept 2010

Cunningham Vicki J, D'Apice Maria Rosaria, Licata Norma, Novelli Giuseppe, Cundy Tim

Abstract excerpt

Mandibuloacral dysplasia (MAD) is a rare recessively inherited premature aging disease characterized by skeletal and metabolic anomalies. It is part of the spectrum of diseases called laminopathies and results from mutations in genes regulating the synthesis of the nuclear laminar protein, lamin A. Homozygous or compound heterozygous mutations in the LMNA gene, which encodes both the precursor protein prelamin A...

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Source

Identifiers

PMID: 20550970
DOI: 10.1016/j.bone.2010.06.004

Genes

ZMPSTE24
LMNA

Variants

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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