A service of the
U.S. National Library of Medicine®
These sources were used to develop the Genetics Home Reference
Eyre D, Shao P, Weis MA, Steinmann B. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab. 2002 Jul;76(3):211-6.
Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A. 2005 Mar 1;133A(2):158-64. Review.
Giunta C, Randolph A, Steinmann B. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. Epub 2005 Jun 24.
Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllylä R. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1):48-56.
Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. J Invest Dermatol. 2005 May;124(5):914-8.
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.
Reviewed: May 2006
Published: December 16, 2013
Lister Hill National Center for Biomedical
U.S. National Library of
National Institutes of
Department of Health & Human
Freedom of Information
Indicates a page outside Genetics Home Reference.
Links to web sites outside the Federal Government do not constitute an endorsement.
Selection Criteria for Web Links
This site complies with the
for trustworthy health information: