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Article

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

Human molecular genetics - 15 May 2009

Sund Kristen Lipscomb, Roelker Stephanie, Ramachandran Vijaya, Durbin Lisa, Benson D Woodrow

Abstract excerpt

Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. To address the cause of locus heterogeneity re...

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Identifiers

PMID: 19251731
DOI: 10.1093/hmg/ddp098
PMCID: PMC2671989

Genes

EVC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19251731-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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