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Paper Details

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Hum Mutat
46
2009
-, /EVC2 mutations, 5' splice site, Autosomal recessive, EVC, EVC2, EVC2 exon 22 mutations, Ellis, Ellis-van Creveld, Ellis-van Creveld syndrome, EvC, G, Hedgehog, NIH 3T3 cells, NIH 3T3 fibroblasts, Weyer, Weyer acrodental dysostosis, Weyer variant, Weyer variants, c.940, donor splice site, exon, exon 22, intron 7, novel, patient

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Release 1.2