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Article

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

American journal of human genetics - 1 Aug 2002

Novelli Giuseppe, Muchir Antoine, Sangiuolo Federica, Helbling-Leclerc Anne, D'Apice Maria Rosaria, Massart Catherine, Capon Francesca, Sbraccia Paolo, Federici Massimo, Lauro Renato, Tudisco Cosimo, Pallotta Rosanna, Scarano Gioacchino, Dallapiccola Bruno, Merlini Luciano, Bonne Gisèle

Abstract excerpt

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromosome 1q21 and has been associated with five distinct pathologies, including Dunnigan-type familial partial...

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Identifiers

PMID: 12075506
DOI: 10.1086/341908
PMCID: PMC379176

Genes

LMNA

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.PMID 12075506Read ↗

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