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Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I, See J, McGonigle WC. Forghani I, et al. Genes (Basel). 2025 Apr 29;16(5):530. doi: 10.3390/genes16050530. Genes (Basel). 2025. PMID: 40428350 Free PMC article.
Background/Objectives: Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common subtype of Ehlers-Danlos syndromes (EDS), a heterogeneous group of hereditary connective tissue disorders. ...However, the exclusion process and the role of genetic …
Background/Objectives: Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common subtype of Ehlers-Danlos syn …
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA. Gensemer C, et al. Dev Dyn. 2021 Mar;250(3):318-344. doi: 10.1002/dvdy.220. Epub 2020 Aug 17. Dev Dyn. 2021. PMID: 32629534 Free PMC article. Review.
The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings …
The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperexte …
Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.
Scicluna K, Formosa MM, Farrugia R, Borg I. Scicluna K, et al. Clin Genet. 2022 Jan;101(1):20-31. doi: 10.1111/cge.14026. Epub 2021 Jul 14. Clin Genet. 2022. PMID: 34219226 Review.
The Ehlers-Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical examination and confirmatory genetic testing. Diagnosis of the commonest subtype, hypermobile Ehl …
The Ehlers-Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually dia …
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free article.
BACKGROUND: The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. METHOD …
BACKGROUND: The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 …
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.
Ritelli M, Chiarelli N, Cinquina V, Zoppi N, Bertini V, Venturini M, Colombi M. Ritelli M, et al. Cells. 2022 Dec 14;11(24):4040. doi: 10.3390/cells11244040. Cells. 2022. PMID: 36552803 Free PMC article.
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping connective tissue disorders of unknown etiology and without any validated diagnostic biomarker and specific therapies. ...We demonstr …
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping …
Dermal fibroblast-to-myofibroblast transition sustained by alphavss3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Zoppi N, Chiarelli N, Binetti S, Ritelli M, Colombi M. Zoppi N, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):1010-1023. doi: 10.1016/j.bbadis.2018.01.005. Epub 2018 Jan 5. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29309923 Free article.
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications, and minor skin changes. ...We previously r …
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecula …
Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause.
Leinøe E, Fridriksdottir H, Rasmussen AØ, Funding E, Sørensen ALT, Kampmann P, Lykkesfeldt J, Rossing M. Leinøe E, et al. Haemophilia. 2024 Nov;30(6):1366-1372. doi: 10.1111/hae.15099. Epub 2024 Sep 23. Haemophilia. 2024. PMID: 39311717 Free PMC article.
Vitamin C was analyzed by high-performance liquid chromatography. Genetic screening for causal variants in 42 CTD genes was performed. RESULTS: The majority of patients were female (56/60). ...Ten patients met the clinical diagnostic criteria for hypermobile …
Vitamin C was analyzed by high-performance liquid chromatography. Genetic screening for causal variants in 42 CTD genes was pe …
High Prevalence of Connective Tissue Gene Variants in Professional Ballet.
Vera AM, Peterson LE, Dong D, Haghshenas V, Yetter TR, Delgado DA, McCulloch PC, Varner KE, Harris JD. Vera AM, et al. Am J Sports Med. 2020 Jan;48(1):222-228. doi: 10.1177/0363546519887955. Epub 2019 Nov 25. Am J Sports Med. 2020. PMID: 31765226
BACKGROUND: There is a high prevalence of hypermobility spectrum disorder (HSD) in dancers. While there is no known genetic variant for HSD, hypermobile Ehlers-Danlos syndrome is a genetic disorder that exists within HSD. ...There was no …
BACKGROUND: There is a high prevalence of hypermobility spectrum disorder (HSD) in dancers. While there is no known genetic variant f …