PI
Specialization
Pediatrics; Clinical Genetics; Translational Medicine
Focus of research
Focus is directed on the clinical history of known genetic entities; pediatric aspects of care to patients with known genetic entities; translational studies; molecular dysmorphology; functional studies; and behavioral aspects of known entities. Entities that are specifically studied are autism; intellectual disability; connective tissue disorders (especially Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome); disorders with abnormal blood vessel and lymph vessel formation; Hutchinson-Gilford progeria; and many specific syndromes.