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Last Updated: 03/06/2025
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1 clinical trials
Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Enrollment Status: Recruiting
Publish Date: December 11, 2024
Distance: 39.2 mi
Summary: CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find m...
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Last Updated: 03/06/2025