A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene.

We reported an extremely rare case of pEDS with a missense mutation in C1R in a Chinese family, with coexistence C1R and COL3A1 mutations in the proband who was suspected to suffer from vascular EDS as well. To our knowledge, this is the first case of coexistence of two forms of EDS in a single individual.