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Article

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Human genetics - 1 Jan 2007

Tompson Stuart W J, Ruiz-Perez Victor L, Blair Helen J, Barton Stephanie, Navarro Victoria, Robson Joanne L, Wright Michael J, Goodship Judith A

Abstract excerpt

Ellis-van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6 kb. We systematically sought mutations in both genes in a panel of 65 affected individuals to assess the proportion of cases resulting from mutations in each gene. We PCR amplified and sequenced the coding exons of both genes. We investigated mutations that could affect splicing by in...

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Identifiers

PMID: 17024374
DOI: 10.1007/s00439-006-0237-7

Genes

EVC
EVC2

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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.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.PMID 17024374Read ↗

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.Semantic proximity Read ↗

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.Semantic proximity Read ↗

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Semantic proximity Read ↗

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.Semantic proximity Read ↗

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from TurkeySemantic proximity Read ↗

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.Semantic proximity Read ↗

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.Semantic proximity Read ↗

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