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

Am J Hum Genet. 2003 Jul;73(1):214-7. doi: 10.1086/376564.
No abstract available

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / physiopathology
  • Female
  • Haplotypes*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Tenascin / genetics*

Substances

  • Tenascin
  • tenascin X