Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

Conclusion
We confirmed that EVC and EVC2 are the major genes involved in the EVC phenotype and highlighted the high prevalence of previously unreported CNVs (Copy Number Variation).

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Aubert-Mucca, M., Huber, C., Baujat, G., Michot, C., Zarhrate, M., Bras, M., Boutaud, L., Malan, V., Attie-Bitach, T., Clinical Contributors, Cormier-Daire, V., Alembik, Alex-Cordier, Aziza, Capri, Caeymaen, Carles, Devillard, Devriendt, Dieux, Dubucs, Ch Tags: Diagnostics Source Type: research