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Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Who can join

All ages · All sexes

Inclusion Criteria:

* ACC; unaffected individuals only if part of a participating ACC family

Exclusion Criteria:

* No ACC unaffected individuals only as part of a participating ACC family

About the study

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.

Sponsor: UConn Health · Participants: 600 · Started: 2009-04

Contact the study team

• Ernst J Reichenberger, PhD · Phone: 860-679-2062

Official record on ClinicalTrials.gov — NCT01630421

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 1, 2026. Each study sets its own eligibility; the study team decides who can join.