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Vanderbilt researchers discovered a new genetic disease
Biotechnology, Diagnostics, Life Science History, Life Science News, Non-Profit Research, Therapeutics
On Jan. 13, 2020, Vanderbilt University Medical Center researcher Ela Knapik, MD and her colleagues announced they had discovered the syndrome caused by mutation of a single gene and named it CATIFA (cleft palate, cataracts, tooth abnormality, intellectual disability, facial dysmorphism and ADHD).
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Source: VUMC Reporter
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