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Article

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.

The Journal of clinical endocrinology and metabolism - 1 Dec 2008

Agarwal Anil K, Kazachkova Irina, Ten Svetlana, Garg Abhimanyu

Abstract excerpt

CONTEXT: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding nuclear lamina proteins, lamins A/C (LMNA) or prelamin A processing enzyme, and zinc metalloproteinase (ZMPSTE24). OBJECTIVE: The aim of the study was to investigate the underlying genetic and molecular basis of the phenotype of a 7-yr-old girl with MAD belonging to a consanguineous pedigree...

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Source

Open in PubMed Open full text

Identifiers

PMID: 18796515
DOI: 10.1210/jc.2008-0123
PMCID: PMC2626450

Genes

LMNA
ZMPSTE24

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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