Philip Boone, M.D., Ph.D.
Instructor in Pediatrics
Boston Children's Hospital
5th floor Hunnewell Building
300 Longwood Ave
Boston MA 02115
Available: 11/01/20, Expires: 11/01/23
Cornelia de Lange syndrome is a genetic condition featuring birth defects, diminished growth, intellectual disability, autism, and other features. Several genes for this condition are known, but the molecular steps between gene and phenotype remain obscure, and there is no targeted therapy. The medical student's scholarly project would seek to generate knowledge in these areas and could involve wet lab, computational, or clinical research.
The research activities and funding listed below are automatically derived from
NIH ExPORTER and other sources, which might result in incorrect or missing items.
to make corrections and additions.
(BOONE, PHILIP MICHAEL)
Aug 15, 2020 - May 31, 2025
Defining the disorders of genome organization
Role: Principal Investigator
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