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Genetic and Functional Analysis of Cherubism
Sponsor: UConn Health
Summary
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.
Official title: Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
600
Start Date
2009-04
Completion Date
2025-12
Last Updated
2024-12-11
Healthy Volunteers
No
Conditions
Locations (1)
University of Connecticut Health Center
Farmington, Connecticut, United States