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Baylor University Medical Center Proceedings
The peer-reviewed journal of Baylor Scott & White Health
Volume 30, 2017 - Issue 1
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Case Studies

Understanding Vascular-Type Ehlers-Danlos Syndrome and Avoiding Vascular Complications

, MD, MPH & , MD

  • Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342 (10): 673–680.
  • Tschernogobow A. Ein fall von cutis laxa. Jahresber Ges Med 1892;27: 562.
  • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ; Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Ehlers-Danlos syndromes: revised nosology, Villefranche 1997. Am J Med Genet 1998;77 (1): 31–37.
  • Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem 1988;263 (13): 6226–6232.
  • Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome type IV. Am J Hum Genet 2001;69: 989–1001.

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