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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. ...CONCLUSION: Although vascular Ehlers-Danlos syndrome appears to be genetically homogene …
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozyg …
Vascular Ehlers-Danlos Syndrome.
Byers PH. Byers PH. 1999 Sep 2 [updated 2019 Feb 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 2 [updated 2019 Feb 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 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 …
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 proc …
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a …
Ehlers-Danlos syndrome type IV.
Germain DP. Germain DP. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. Orphanet J Rare Dis. 2007. PMID: 17640391 Free PMC article. Review.
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with hig …
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), …
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. Associated tissue fragilit …
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascul …
The dysmorphic phenotype in vascular Ehlers Danlos syndrome.
Lyness JR, Morrison PJ. Lyness JR, et al. Clin Dysmorphol. 2023 Jan 1;32(1):1-6. doi: 10.1097/MCD.0000000000000437. Epub 2022 Nov 3. Clin Dysmorphol. 2023. PMID: 36503916 Review.
The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and ex …
The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascula …
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z, Zheng Y. Gu G, et al. Vasc Endovascular Surg. 2018 Feb;52(2):138-142. doi: 10.1177/1538574417745432. Epub 2017 Dec 7. Vasc Endovascular Surg. 2018. PMID: 29216800 Review.
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. ...We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the …
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of art …
Vascular type of Ehlers-Danlos syndrome.
Watanabe A, Shimada T. Watanabe A, et al. J Nippon Med Sch. 2008 Oct;75(5):254-61. doi: 10.1272/jnms.75.254. J Nippon Med Sch. 2008. PMID: 19023163 Free article. Review.
Vascular type of Ehlers-Danlos syndrome (EDS), also known as EDS type IV (NIM#130050) is a life-threatening autosomal dominant inherited disorder of connective tissue, caused by mutations of the COL3A1 gene. ...In addition, when a …
Vascular type of Ehlers-Danlos syndrome (EDS), also known as EDS type IV (NIM#130050) is a life-th …
A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome.
Aydıner Ö, Hançer VS. Aydıner Ö, et al. Mol Syndromol. 2020 Jun;11(2):110-114. doi: 10.1159/000506585. Epub 2020 Feb 28. Mol Syndromol. 2020. PMID: 32655343 Free PMC article.
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. ...The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and …
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. ...Th …
Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome: An uncommon case report.
Slaoui A, Mahtate M, Lazhar H, Lakhdar A, Baydada A, Kharbach A. Slaoui A, et al. Int J Surg Case Rep. 2022 Mar;92:106840. doi: 10.1016/j.ijscr.2022.106840. Epub 2022 Feb 18. Int J Surg Case Rep. 2022. PMID: 35202939 Free PMC article.
INTRODUCTION AND IMPORTANCE: Vascular Ehlers-Danlos syndrome also referred to as Ehlers-Danlos Type IV is an uncommon autosomal dominant genetic disorder linked to connective tissue abnormality. ...CLINICAL DISCUSSION AND CONCLUSIO …
INTRODUCTION AND IMPORTANCE: Vascular Ehlers-Danlos syndrome also referred to as Ehlers-Danlos Type …
145 results