Associated Papers
A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2023
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
Rudnik-Schöneborn S et al.
Molecular Syndromology, 2011
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Umm-E-Kalsoom et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Ali BR et al.
Bmc Medical Genetics, 2010
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
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Ulucan H et al.
Bmc Medical Genetics, 2008
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