Associated Papers
Identification of a Novel EVC2 Variant in a Family with Non-Syndromic Tooth Agenesis and Its Potential Functional Implications.
Yan C et al.
Genes, 2025
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
D'Asdia MC et al.
European Journal of Medical Genetics, 2013
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Valencia M et al.
Human Mutation, 2009
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
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