C Angwin, J Zschocke, T Kammin, E Björck, J Bowen, A F Brady, H Burns, C Cummings, R Gardner, N Ghali, R Gröbner, J Harris, M Higgins, D Johnson, U Lepperdinger, D Milnes, F M Pope, R Sehra, I Kapferer-Seebacher, G Sobey, F S Van Dijk
Introduction: Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per the 2017 International EDS Classification. In 2016, deleterious pathogenic heterozygous variants were identified in C1R and C1S , which encode components of the complement system. Materials and Methods: Individuals with a clinical suspicion of pEDS were clinically and molecularly assessed through the National EDS Service in London and Sheffield and in genetic services in Austria, Sweden and Australia...
2023: Frontiers in Genetics