ArticleCase reports in dentistry2025
Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.
Article in Case reports in dentistry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.Case reports in dentistry · 2025Article
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4 authors.
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Abstract
Introduction: Ellis-van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the Patient Information: We report an 11-year-old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation, c.1750delC (p.Q584Rfs∗4), in the Dental Management: The patient received multidisciplinary dental care, including composite restorations and prosthodontic rehabilitation with partial dentures adapted for future tooth eruption. The identification of this specific Conclusions: This case highlights a novel
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