Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

Clinical dysmorphology - 1 Jan 2021

Turkyilmaz Ayberk, Geçkinli Bilgen Bilge, Alavanda Ceren, Ates Esra Arslan, Arman Ahmet

Abstract excerpt

LMNA gene encodes A-type lamins and the encoded proteins join the structure of the nuclear lamina and affect the processes of nuclear homeostasis, DNA replication, repair, transcription, and apoptosis. LMNA variants cause a heterogeneous group of diseases known as laminopathies. Phenotypes associated with LMNA variants mainly affect the heart, skeleton, skin, bones, and nervous system. The affected tissues may...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Biological Variation, Population

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Genotype

Share to Lamin Type A

Share to Organ Specificity

Source

Identifiers

PMID: 33038109
DOI: 10.1097/MCD.0000000000000355

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.PMID 33038109Read ↗

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.Semantic proximity Read ↗

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

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

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

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

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesSemantic proximity Read ↗

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Semantic proximity Read ↗

Advances in lipodystrophy syndrome caused by LMNA gene mutation.Semantic proximity Read ↗

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

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Semantic proximity Read ↗

[Laminopathies: one gene, several diseases].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 ↗

⌁Select a neighboring publication to make it the new centre.