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Article

Autosomal recessive LMNA mutation causing restrictive dermopathy.

Clinical genetics - 1 Aug 2010

Youn G J, Uzunyan M, Vachon L, Johnson J, Winder T L, Yano S

Abstract excerpt

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Topics

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Share to Fatal Outcome
Share to LMNA gene
Share to Genes, Recessive
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lamin Type A

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Source

Identifiers

PMID: 20662858
DOI: 10.1111/j.1399-0004.2010.01385.x

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive LMNA mutation causing restrictive dermopathy.PMID 20662858Read ↗

Restrictive Dermopathy.Semantic proximity Read ↗

[Mutation of lamine A or the ZMPSTE 24 gene in restrictive dermopathy].Semantic proximity Read ↗

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.Semantic proximity Read ↗

Advances in research on the relationship between the LMNA gene and human diseases (Review).Semantic proximity Read ↗

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.Semantic proximity Read ↗

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.Semantic proximity Read ↗

Normal and aberrant splicing of LMNA.Semantic proximity Read ↗

Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.Semantic proximity Read ↗

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.Semantic proximity Read ↗

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.Semantic proximity Read ↗

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.Semantic proximity Read ↗

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Semantic proximity Read ↗

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