Ontology highlight
ABSTRACT:
SUBMITTER: Sapp JC
PROVIDER: S-EPMC5720922 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Genetics in medicine : official journal of the American College of Medical Genetics 20170629 12
PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions.MethodsTo address this we used the clinical research records of 64 patients in a longitudinal natural history cohort at the National Institutes of Health to ascertain the data in an or ...[more]