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Ehlers-Danlos syndrome, classic type
Other Names for this Disease
- Classic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 1 (formerly)
- Ehlers-Danlos syndrome type 2 (formerly)
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COL5A1 or COL5A2, two genes which encode type V collagen. The condition is inherited in an autosomal dominant manner.Ehlers-Danlos syndrome (EDS), classic type, is an inherited connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. The classic type is made up of two previously designated subtypes (EDS type I and EDS type II) which represent a continuum of clinical features. About 50% of people with EDS, classic type have mutations in
Last updated: 6/15/2011
- Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1244/. Accessed 6/15/2011.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ehlers-Danlos syndrome, classic type. Click on the links below to go to OMIM and review these resources.
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