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

Heart–hand syndrome of Slovenian type: a new kind of laminopathy

8 Jul 2008

Abstract excerpt

BACKGROUND: Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS: We report a new LMNA mutation (c.1609-12T>G, IVS9-12 T>G) that creates a new cryptic splicing site with the retention of 11 intronic...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Nuclear Structure and Function
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18611980
DOI: 10.1136/jmg.2008.060020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heart–hand syndrome of Slovenian type: a new kind of laminopathyPMID 18611980Read ↗

Updated clinical overview on cardiac laminopathies: an electrical and mechanical diseaseSemantic proximity Read ↗

Lamin A/C and cardiac diseases.Semantic proximity Read ↗

Heart involvement in lamin A/C related diseases.Semantic proximity Read ↗

Lamin and the heart.Semantic proximity Read ↗

Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.Semantic proximity Read ↗

Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster.Semantic proximity Read ↗

Laminopathies: from the heart of the cell to the clinics.Semantic proximity Read ↗

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

[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know].Semantic proximity Read ↗

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.Semantic proximity Read ↗

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.Semantic proximity Read ↗

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.Semantic proximity Read ↗

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