Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density

In this project we study cases from unrelated pedigrees that present at a young age with a phenotype which inludes hypotonia and hypodensity of bones, a chronic elevation of some liver and muscle enzymes as well as abnormal platelet number and volume. We aim to use exome sequencing to discover the causative variants reponsible for these defects.EGA study EGAS00001000093