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References

These sources were used to develop the Genetics Home Reference condition summary on Ehlers-Danlos syndrome.

Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998 Apr 28;77(1):31-7. PubMed citation
Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug;65(2):308-17. PubMed citation
Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2002 May;16(3):391-7. Epub 2002 May 21. Review. PubMed citation
Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am. 1999 Feb;81(2):225-38. Review. PubMed citation
Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII. J Med Genet. 2000 Nov;37(11):E33. No abstract available. PubMed citation
Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kalra M, Sullivan T, Gloviczki P. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005 Jul;42(1):98-106. PubMed citation
Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct 18;345(16):1167-75. PubMed citation
Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000 Jun;66(6):1757-65. Epub 2000 May 4. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p5262-5271.
Uitto J. The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics. Eur J Dermatol. 2005 Sep-Oct;15(5):311-2. No abstract available. PubMed citation
Whitelaw SE. Ehlers-Danlos Syndrome, classical type: case management. Pediatr Nurs. 2003 Nov-Dec;29(6):423-6. Review. PubMed citation
Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. 2000 Sep-Oct;71(1-2):212-24. Review. PubMed citation
Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet. 2003 Jul;73(1):214-7. No abstract available. PubMed citation
Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, Mecham RP, Steijlen PM, Bristow J, Schalkwijk J. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004 Apr;122(4):885-91. PubMed citation


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