Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Palencia-Campos A et al.
Human Molecular Genetics, 2017
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
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW et al.
Human Genetics, 2007
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Ruiz-Perez VL et al.
American Journal of Human Genetics, 2003
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