This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Ehlers-Danlos syndrome (EDS) type IV, also known as the vascular type of EDS, is a rare inherited disorder in which affected individuals have a decreased life expectancy because they are at risk for arterial and bowel rupture. The dominantly inherited disorder results from mutations in the COL3A1 gene that encodes the chains of type III collagen, a component of the walls of blood vessels and bowel. We will take detailed histories, complete detailed physical examinations, assemble complete medical documentation, and image, by high resolution MRI, portions of the vascular tree of individuals with genetically documented mutations in the COL3A1 gene to determine if characteristics of arterial wall could point to specific useful therapies. The GCRC will be used for interviews and exams.
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