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Article

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.

Gene - 10 Feb 2016

Yassaee Vahid Reza, Khojaste Arash, Hashemi-Gorji Feyzollah, Ravesh Zeinab, Toosi Parviz

Abstract excerpt

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is a rare genetic disorder inherited in an autosomal recessive fashion characterized by hypoplasia of the mandible and clavicles, acroosteolysis and lipodystrophy due to mutations in the LMNA or ZMPSTE24 genes. In the current study, we have investigated a consanguineous family clinically diagnosed with mandibuloacral dysplasia type A having an affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26602028
DOI: 10.1016/j.gene.2015.08.071

Genes

LMNA
ZMPSTE24

Variants

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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