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Article

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

Journal of medical genetics - 1 Nov 2003

Shen J J, Brown C A, Lupski J R, Potocki L

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Share to Abnormalities, Multiple
Share to Arginine
Share to Craniofacial Abnormalities
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histidine

Share to Lamin Type A

Share to Lipodystrophy

Share to Musculoskeletal Abnormalities

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Identifiers

PMID: 14627682
DOI: 10.1136/jmg.40.11.854
PMCID: PMC1735303

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Related research

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Research trail→

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Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.PMID 14627682Read ↗

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

Lamin A/C mutation: An easily missed opportunity.Semantic proximity Read ↗

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

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.Semantic proximity Read ↗

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

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

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.Semantic proximity Read ↗

Benign anomaly to malign dysplasia: variable expression of lamin B receptor mutations in humans.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene.Semantic proximity Read ↗

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.Semantic proximity Read ↗

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

Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.Semantic proximity Read ↗

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