Tag: <span>underlying mechanism</span>

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Vanderbilt-led team discovers new genetic disease and defines underlying mechanism

Studies that started in zebrafish have now pointed to a role for collagen secretion in a wide variety of clinical symptoms — and in a newly identified genetic syndrome. Ela Knapik, MD, associate professor of Medicine at Vanderbilt University Medical Center, and her colleagues discovered the syndrome caused by mutation of a single gene and...