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

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Clinical genetics - 1 Jan 2017

Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G

Abstract excerpt

Left ventricular noncompaction cardiomyopathy (LVNC) is a clinically heterogeneous disorder characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. Several genetic causes of LVNC have been reported, with variable modes of inheritance, including autosomal dominant and X-linked inheritance, but relatively few responsible genes have been...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Family Health

Share to Gene Deletion

Share to Heart Ventricles

Share to Plakophilins

Share to Siblings

Source

Identifiers

PMID: 27030002
DOI: 10.1111/cge.12780

Genes

PKP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.PMID 27030002Read ↗

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.Semantic proximity Read ↗

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center ExperienceSemantic proximity Read ↗

Genetic Analysis of Patients with Left Ventricular Noncompaction: Identification of Novel Candidate VariantsSemantic proximity Read ↗

Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.Semantic proximity Read ↗

Morphological and genetic causes of fetal cardiomyopathies.Semantic proximity Read ↗

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.Semantic proximity Read ↗

Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in ChildrenSemantic proximity Read ↗

Genetic Basis of Left Ventricular Noncompaction.Semantic proximity Read ↗

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.Semantic proximity Read ↗

Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.Semantic proximity Read ↗

Association of mutation in the PRKAG2 with familial left ventricular non-compaction cardiomyopathySemantic proximity Read ↗

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathySemantic proximity Read ↗

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