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Article

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

BMC pediatrics - 7 Oct 2014

Luo Di-Qing, Wang Xiao-Zhu, Meng Yan, He Ding-Yang, Chen Ying-Ming, Ke Zhi-Yong, Yan Ming, Huang Yu, Chen Da-Fang

Abstract excerpt

BACKGROUND: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can...

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Source

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Identifiers

PMID: 25286833
DOI: 10.1186/1471-2431-14-256
PMCID: PMC4287574

Genes

LMNA
ZMPSTE24
BANF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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