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Article

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

Clinical dysmorphology - 1 Jul 2016

Ozer Leyla, Unsal Evrim, Aktuna Suleyman, Baltaci Volkan, Celikkol Pelin, Akyigit Fatma, Sen Askin, Ayvaz Ozge, Balci Sevim

Abstract excerpt

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and...

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Source

Identifiers

PMID: 27100822
DOI: 10.1097/MCD.0000000000000132

Genes

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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