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Vascular Ehlers-Danlos Syndrome.
Byers PH. Byers PH. 1999 Sep 2 [updated 2025 Apr 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1999 Sep 2 [updated 2025 Apr 10]. 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: 20301667 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose …
CLINICAL CHARACTERISTICS: Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uteri …
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. ...A summary of recommendations for management include: Identify causative var …
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection …
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Pepin MG, et al. Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922459 Free article.
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations. METHODS: We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 i …
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozyg …
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Bowen JM, Hernandez M, Johnson DS, Green C, Kammin T, Baker D, Keigwin S, Makino S, Taylor N, Watson O, Wheeldon NM, Sobey GJ. Bowen JM, et al. Eur J Hum Genet. 2023 Jul;31(7):749-760. doi: 10.1038/s41431-023-01343-7. Epub 2023 Mar 29. Eur J Hum Genet. 2023. PMID: 36977837 Free PMC article. Review.
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. ...There is current …
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vas …
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. ...Thus the natural course of vEDS and the clinical phenotype of patients are influenced by the type of COL3A1 variant …
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the CO …
Vascular Ehlers-Danlos syndrome.
Germain DP, Herrera-Guzman Y. Germain DP, et al. Ann Genet. 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002. Ann Genet. 2004. PMID: 15127738 Review.
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a life-threatening inherited disorder of connective tissue, resulting from mutations in the COL3A1 gene coding for type III procollagen. ...As for many rare …
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a life-threatening inhe …
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Pepin M, et al. N Engl J Med. 2000 Mar 9;342(10):673-80. doi: 10.1056/NEJM200003093421001. N Engl J Med. 2000. PMID: 10706896 Free article.
BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). ...The types of complications were not associated with specific mutations in COL3A1. CONCLUSIONS: Although most …
BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procolla …
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.
Calderon-Martinez E, Velasco WV, Guo D, Hostetler EH, Xun Z, Stephens S, Shalhub S, De Backer J, Ouzounian M, LeMaire SA, Milleron O, Hanna N, Arnaud P, Tchitchinadze M, Prakash SK, Lindsay M, Marcadier J, Jeremy R, Morris SA, Yetman AT, Boileau C, Braverman AC, Jondeau G, Milewicz DM. Calderon-Martinez E, et al. J Am Coll Cardiol. 2025 Jun 24;85(24):2355-2367. doi: 10.1016/j.jacc.2025.04.023. J Am Coll Cardiol. 2025. PMID: 40533124 Free article.
Arterial aneurysms, dissections, and ruptures are associated with pathogenic variants (PVs) in COL3A1, which is responsible for vascular Ehlers-Danlos syndrome, but arterial events are rare in Marfan syndrome due to PVs in FBN1, and poorly characterize …
Arterial aneurysms, dissections, and ruptures are associated with pathogenic variants (PVs) in COL3A1, which is responsible for va …
[Vascular Ehlers-Danlos syndrome].
Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN. Perdu J, et al. Presse Med. 2006 Dec;35(12 Pt 2):1864-75. doi: 10.1016/s0755-4982(06)74919-3. Presse Med. 2006. PMID: 17159712 Review. French.
The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. ...Psychological treatment and support of patients and their families is essential, to help them both to live with their disease and to dea …
The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. …
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
Olson SL, Murray ML, Skeik N. Olson SL, et al. Ann Vasc Surg. 2019 Nov;61:472.e9-472.e13. doi: 10.1016/j.avsg.2019.05.057. Epub 2019 Aug 5. Ann Vasc Surg. 2019. PMID: 31394236 Review.
Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. ...We present a novel frameshift variant in COL3A1 leading to vEDS with multiple vascular involvements. Based on our literature review …
Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. ...We pr …
313 results