Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

ABSTRACT: We describe a data repository on heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health's National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, and unaffected family members. Elements include comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures, and an extensive linked biorepository. The NIA made a commitment to make the repository available to extramural investigators and deposited samples at Coriell Tissue Repository (N = 126) and GenTAC registry (N = 132). The clinical dataset was transferred to Penn State Universi

SUBMITTER: Bascom R 

PROVIDER: S-EPMC6467085 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature