Primary areas of research interest have focused on medical genetics, particularly short stature and the skeletal dysplasias (a group of disorders associated with abnormalities in the size and shape of the limbs, trunk and/or skull) and heritable disorders of connective tissue. Developed the International Skeletal Dysplasia Registry, the largest such registry in the world.
Described over 25 new syndromes, participated in the discovery of the molecular defect in over 40 skeletal dysplasias involving over 25 different genes, described isolated growth hormone deficiency, hypothesized genetic heterogeneity in diabetes mellitus.
Clinical manifestations, complications, treatment and molecular mechanisms in the skeletal dysplasias
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