Associated Papers
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Hedgehog receptor function during craniofacial development.
Xavier GM et al.
Developmental Biology, 2016
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
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
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW et al.
Human Genetics, 2007
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X et al.
Human Genetics, 2006
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL et al.
Nature Genetics, 2000
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