Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
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Open Access
- 9 March 2000
- journal article
- research article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 342 (10), 673-680
- https://doi.org/10.1056/nejm200003093421001
Abstract
Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented.Keywords
This publication has 17 references indexed in Scilit:
- Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relativesAmerican Journal of Medical Genetics, 1999
- Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IVAmerican Journal of Human Genetics, 1997
- COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular ruptureBritish Journal of Dermatology, 1996
- Cerebrovascular complications in Ehlers‐Danlos syndrome type IVAnnals of Neurology, 1995
- 2. Maps of birth defects occurrence in the U.S., birth defects monitoring program (BDMP)/CPHA, 1970–1987Teratology, 1993
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences of the United States of America, 1989
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Pregnancy Management and Successful Outcome of Ehlers-Danlos Syndrome Type IVAmerican Journal of Perinatology, 1987
- PREGNANCY AND EHLERS-DANLOS SYNDROME TYPE IVThe Lancet, 1983
- PREGNANCY COMPLICATIONS IN TYPE IV EHLERS-DANLOS SYNDROMEThe Lancet, 1983