Ehlers-Danlos syndrome

Netherlands Journal of Medicine

Volumn 62, Issue 5, 2004, Pages 140-142

  Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TENASCIN;

ADRENAL HYPERPLASIA; ARTHRODESIS; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EDITORIAL; EHLERS DANLOS SYNDROME; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; OCCUPATIONAL THERAPY; PHYSIOTHERAPY; SCAR FORMATION; SKIN BRUISING; VASCULAR DISEASE;

EHLERS-DANLOS SYNDROME; HUMANS;

EID: 4143068030     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (8)

1. Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001;345:1167-75.
2. Burch GH, Gong Y, Liu W, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997;17:104-8.
3. Beighton P. The Ehlers-Danlos syndrome. London: William Heinemann Medical Books, 1970.
4. Beighton P, Paepe A de, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefiranche, 1997. Am J Med Genet 1998;77:31-7.
5. Steinmann B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (eds). Connective tissue and its heritable disorders, 2nd edition. New York: Wiley-Liss, 2002:431-525.
6. Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777-9.
7. Zweers MC, Bristow J, Steijlen PM, et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet 2003;73:214-7.
8. Peeters ACTM, Kucharekova M, Timmermans J, et al. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. Neth J Med 2004;62:160-2.