Genetic and Functional Analysis of Cherubism
Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
UConn Health
600 participants
Apr 1, 2009
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria1
- cherubism; unaffected individuals only if part of a participating cherubism family
Exclusion Criteria1
- no cherubism unaffected individuals only as part of a participating cherubism family
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT01630447