Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• ACC; unaffected individuals only if part of a participating ACC family
Locations
United States
Connecticut
University of Connecticut Health Center
RECRUITING
Farmington
Contact Information
Primary
Ernst J Reichenberger, PhD
reichenberger@uchc.edu
860-679-2062
Time Frame
Start Date: 2009-04
Estimated Completion Date: 2030-12
Participants
Target number of participants: 600
Treatments
affected, unaffected
Individuals with diagnosed ACC
Related Therapeutic Areas
Sponsors
Leads: UConn Health