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Page 1
Classic Ehlers-Danlos Syndrome.
Malfait F, Symoens S, Syx D. Malfait F, et al. 2007 May 29 [updated 2024 Feb 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2007 May 29 [updated 2024 Feb 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301422 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). ...DIAGNOSIS/TESTING: The diagnosis of cEDS is es …
CLINICAL CHARACTERISTICS: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized …
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
Malfait F, Wenstrup RJ, De Paepe A. Malfait F, et al. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Genet Med. 2010. PMID: 20847697 Free article. Review.
It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the alpha1 and the alpha2-chain of type V collagen, respectively. ...I …
It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrom …
Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.
Kiener S, Apostolopoulos N, Schissler J, Hass PK, Leuthard F, Jagannathan V, Schuppisser C, Soto S, Welle M, Mayer U, Leeb T, Fischer NM, Kaessmeyer S. Kiener S, et al. Genes (Basel). 2022 Apr 29;13(5):797. doi: 10.3390/genes13050797. Genes (Basel). 2022. PMID: 35627182 Free PMC article.
We investigated four cats with similar clinical skin-related signs strongly suggestive of Ehlers-Danlos syndrome (EDS). Cases no. 1 and 4 were unrelated and the remaining two cases, no. 2 and 3, were reportedly siblings. ...We searched for private protein changing v …
We investigated four cats with similar clinical skin-related signs strongly suggestive of Ehlers-Danlos syndrome (EDS). Cases …
Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.
Bullock G, Jaffey JA, Cohn LA, Sox E, Hostnik ET, Hutcheson KD, Matero E, Hoffmann KS, Johnson GS, Katz ML. Bullock G, et al. J Vet Intern Med. 2024 Sep-Oct;38(5):2431-2443. doi: 10.1111/jvim.17180. Epub 2024 Aug 22. J Vet Intern Med. 2024. PMID: 39175162 Free PMC article.
BACKGROUND: Human patients with Ehlers-Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common subtype in peop …
BACKGROUND: Human patients with Ehlers-Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants …
Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome.
Caley L, Campar A, Mendonça T, Farinha F. Caley L, et al. Eur J Case Rep Intern Med. 2023 Jan 24;10(2):003698. doi: 10.128f90/2023_003698. eCollection 2023. Eur J Case Rep Intern Med. 2023. PMID: 36970158 Free PMC article.
Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. ...LEARNING POINTS: Classical …
Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has th …
Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
Fett J, Dimori M, Carroll JL, Morello R. Fett J, et al. Physiol Rep. 2022 Apr;10(8):e15275. doi: 10.14814/phy2.15275. Physiol Rep. 2022. PMID: 35439366 Free PMC article.
The Ehlers-Danlos syndromes (EDS) are inherited connective tissue diseases with primary manifestations that affect the skin and the musculoskeletal system. ...We performed histological, histomorphometric, and the first in-depth characterization of respiratory system …
The Ehlers-Danlos syndromes (EDS) are inherited connective tissue diseases with primary manifestations that affect the skin an …
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. McElroy A, et al. J Vet Intern Med. 2023 Sep-Oct;37(5):1716-1724. doi: 10.1111/jvim.16805. Epub 2023 Aug 18. J Vet Intern Med. 2023. PMID: 37594181 Free PMC article.
BACKGROUND: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both human and veterinary patients. ...Electron microscopy identified ultrastructural defects commonly seen in collagen type V alpha 1 chain ( …
BACKGROUND: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both …
Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome.
Junkiert-Czarnecka A, Maciak K, Kacprzak MM, Łobodzińska A, Sobczyńska-Tomaszewska A, Jurkiewicz A, Gora M, Burzynska B, Pilarska-Deltow M, Haus O. Junkiert-Czarnecka A, et al. Front Genet. 2025 Nov 6;16:1689587. doi: 10.3389/fgene.2025.1689587. eCollection 2025. Front Genet. 2025. PMID: 41282475 Free PMC article.
Ehlers-Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According to the 2017 International Classification, 13 EDS subtypes are associated with pathogenic variants in 19 genes, most of which are involved i …
Ehlers-Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According …
Classical Ehlers-Danlos syndrome with cranio-cervical instability in an infant due to a novel COL5A1 gene mutation.
Thomas Paulraj H, Balasubramanian M, Chinnasamy V, Selvaraj R. Thomas Paulraj H, et al. BMJ Case Rep. 2024 Dec 20;17(12):e262894. doi: 10.1136/bcr-2024-262894. BMJ Case Rep. 2024. PMID: 39950632
Ehlers-Danlos syndromes (EDSs) are a group of connective tissue disorders with diverse clinical and genetic profiles. Classical Ehlers-Danlos syndrome (cEDS), the second most common type, is characterised by skin hyperextensibility, atrophic sca …
Ehlers-Danlos syndromes (EDSs) are a group of connective tissue disorders with diverse clinical and genetic profiles. Class …
97 results