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Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.
Am J Med Genet A. 2005 May 15; 135(1):75-80.AJ

Abstract

We present two unrelated individuals with complete deficiency of tenascin-X, resulting in an autosomal recessive form of Ehlers-Danlos syndrome (EDS). Consistent with the original description of tenascin-X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease.

Authors+Show Affiliations

Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. nlindor@mayo.eduNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15793839

Citation

Lindor, Noralane M., and James Bristow. "Tenascin-X Deficiency in Autosomal Recessive Ehlers-Danlos Syndrome." American Journal of Medical Genetics. Part A, vol. 135, no. 1, 2005, pp. 75-80.
Lindor NM, Bristow J. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet A. 2005;135(1):75-80.
Lindor, N. M., & Bristow, J. (2005). Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. American Journal of Medical Genetics. Part A, 135(1), 75-80.
Lindor NM, Bristow J. Tenascin-X Deficiency in Autosomal Recessive Ehlers-Danlos Syndrome. Am J Med Genet A. 2005 May 15;135(1):75-80. PubMed PMID: 15793839.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. AU - Lindor,Noralane M, AU - Bristow,James, PY - 2005/3/29/pubmed PY - 2005/6/1/medline PY - 2005/3/29/entrez SP - 75 EP - 80 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 135 IS - 1 N2 - We present two unrelated individuals with complete deficiency of tenascin-X, resulting in an autosomal recessive form of Ehlers-Danlos syndrome (EDS). Consistent with the original description of tenascin-X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15793839/Tenascin_X_deficiency_in_autosomal_recessive_Ehlers_Danlos_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.30671 DB - PRIME DP - Unbound Medicine ER -