Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Description

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.

Conditions

Aplasia Cutis Congenita

Study Overview

Study Details

Study overview

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.

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

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)

Condition
Aplasia Cutis Congenita
Intervention / Treatment

-

Contacts and Locations

Farmington

University of Connecticut Health Center, Farmington, Connecticut, United States, 06030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

UConn Health,

Ernst J Reichenberger, PhD, PRINCIPAL_INVESTIGATOR, UConn Health

Study Record Dates

2025-12