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Article

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Human mutation - 1 Dec 2009

Valencia Maria, Lapunzina Pablo, Lim Derek, Zannolli Raffaella, Bartholdi Deborah, Wollnik Bernd, Al-Ajlouni Othman, Eid Suhair S, Cox Helen, Buoni Sabrina, Hayek Joseph, Martinez-Frias Maria L, Antonio Perez-Aytes, Temtamy Samia, Aglan Mona, Goodship Judith A, Ruiz-Perez Victor L

Abstract excerpt

Autosomal recessive Ellis-van Creveld syndrome and autosomal dominant Weyer acrodental dysostosis are allelic conditions caused by mutations in EVC or EVC2. We performed a mutation screening study in 36 EvC cases and 3 cases of Weyer acrodental dysostosis, and identified pathogenic changes either...

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Source

Identifiers

PMID: 19810119
DOI: 10.1002/humu.21117

Genes

EVC2
EVC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19810119-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.PMID 19810119Read ↗

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

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

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.Semantic proximity Read ↗

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

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