Condition: Weyers acrofacial dysostosis
rs753014919 in
CRMP1;EVC gene and
Weyers acrofacial dysostosis
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
rs1017946059 in
EVC gene and
Weyers acrofacial dysostosis
PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
rs200300612 in
EVC2 gene and
Weyers acrofacial dysostosis
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
PMID 19876929 2009 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
rs121908425 in
EVC;CRMP1 gene and
Weyers acrofacial dysostosis
PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.