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Article

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

European journal of medical genetics - 1 Feb 2013

D'Asdia Maria Cecilia, Torrente Isabella, Consoli Federica, Ferese Rosangela, Magliozzi Monia, Bernardini Laura, Guida Valentina, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, De Luca Alessandro

Abstract excerpt

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are allelic disorders caused by mutations in EVC or EVC2 genes. We illustrate the results of direct analysis of whole EVC and EVC2 genes' coding regions in 32 unrelated families with clinical diagnosis of Ellis van Creveld syndrome and in 2 families with Weyers acrofacial dysostosis. We identified mutations in 27/32 (84%) cases with Ellis van Creveld...

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Source

Identifiers

PMID: 23220543
DOI: 10.1016/j.ejmg.2012.11.005

Genes

EVC2
EVC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.PMID 23220543Read ↗

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