Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome
- 1 July 2003
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 73 (1) , 214-217
- https://doi.org/10.1086/376564
Abstract
No abstract availableThis publication has 13 references indexed in Scilit:
- Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen depositionNature Genetics, 2002
- A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X DeficiencyNew England Journal of Medicine, 2001
- The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS).2000
- Tenascin–X deficiency is associated with Ehlers–Danlos syndromeNature Genetics, 1997
- Hypermobility in two Dutch school poulationsEuropean Journal of Obstetrics & Gynecology and Reproductive Biology, 1997
- Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic HeterogeneityJournal of Investigative Dermatology, 1994
- A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagenHuman Molecular Genetics, 1994
- Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.Molecular and Cellular Biology, 1992
- Hypermobility: features and differential incidence between the sexesArthritis & Rheumatism, 1987
- Articular mobility in an African population.Annals of the Rheumatic Diseases, 1973