Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Jul;73(1):214-7.
doi: 10.1086/376564.

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

Manon C Zweers, Jim Bristow, Peter M Steijlen, Willow B Dean, Ben C Hamel, Marisol Otero, Martina Kucharekova, Jan B Boezeman, Joost Schalkwijk

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

Manon C Zweers et al. Am J Hum Genet. 2003 Jul.
No abstract available

PubMed Disclaimer

Figures

Figure  1
Figure  1
TNXB haploinsufficiency and generalized joint hypermobility. a–d, Pedigrees of families A–D (also see table 1). e, Joint hypermobility in individual III9 from family A. f, Distribution of serum TNX levels in control population, population with HT-EDS, and heterozygous (Het) population. Values are given as percentage of the control mean.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for HT-EDS and vascular type of EDS)

References

    1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 77:31–37 - PubMed
    1. Beighton P, Solomon L, Soskolne CL (1973) Articular mobility in an African population. Ann Rheum Dis 32:413–418 - PMC - PubMed
    1. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 17:104–108 - PubMed
    1. Byers PH (1994) Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol Suppl 103:47S–52S - PubMed
    1. Gitelman SE, Bristow J, Miller WL (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol Cell Biol 12:2124–2134 (erratum 12:3313–3314) - PMC - PubMed

Publication types