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Article

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

The Journal of clinical endocrinology and metabolism - 1 Sept 2005

Garg Abhimanyu, Cogulu Ozgur, Ozkinay Ferda, Onay Huseyin, Agarwal Anil K

Abstract excerpt

CONTEXT: Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, lipodystrophy, and mottled cutaneous pigmentation. MAD patients with type A lipodystrophy with loss of sc fat from the extremities and normal or slight excess in the neck and...

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Source

Identifiers

PMID: 15998779
DOI: 10.1210/jc.2004-2560

Genes

LMNA
ZMPSTE24

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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A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.PMID 15998779Read ↗

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.Semantic proximity Read ↗

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

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.Semantic proximity Read ↗

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.Semantic proximity Read ↗

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.Semantic proximity Read ↗

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.Semantic proximity Read ↗

Mandibuloacral dysplasia type A in five tunisian patients.Semantic proximity Read ↗

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish CohortSemantic proximity Read ↗

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Semantic proximity Read ↗

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