RecruitingNCT01630447

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


Sponsor

UConn Health

Enrollment

600 participants

Start Date

Apr 1, 2009

Study Type

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)

University of Connecticut Health Center

Farmington, Connecticut, United States

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NCT01630447