MalfaitF, FrancomanoC, ByersP, et al. The 2017 International Classification of the Ehlers–Danlos Syndromes. Am J Med Genet Part C, 2017; 127C: 8–26.
2.
RitelliM, ColombiM.Molecular genetics and pathogenesis of Ehlers Danlos Syndrome and related connective tissue disorders. Genes, 2020; 11: 547.
3.
BlackburnPR, XuZ, TumeltyKE, et al. Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tssue structure resulting in a variant of Ehlers-Danlos Syndrome. Am J Hum Genet, 2018; 102: 696–705.
HalversonCME, CaoS, PerkinsSM, FrancomanoCA.Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome. Genet Med Open, 2023; 1: 100812.
6.
CastoriM, TinkleB, LevyH, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C, 2017; 175C: 148–157.