• A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis
• Analysis of causes and whole microbial structure in a case of rampant caries
• Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
• Ciliary disorder of the skeleton
• Double epiglottis in Weyer's acrofacial dysostosis
• Drowning at a school swim in a wading pool
• Ellis-van Creveld and Weyers acrofacial dysostosis
• EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO
• Familial diseases revealed by a fetal anomaly
• Microdeletion of 4p16.2 in Children: A Case Report and Literature Review
• Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
• Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins
• Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome
• Prednisolone and the Wade phenomenon. Action of prednisolone in the first part of the Wade phenomenon
• Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
• Role of Primary Cilia in Odontogenesis
• Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome
• Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family
• Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
• Weyers Acrofacial Dysostosis: A Case Report