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Abstract We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs). Here, by genetic association, we demonstrate the existence of a recessive form of RNU2-2 syndrome.
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 2Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston TX 77030 3Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA 4School of Psychology, University of Houston, Houston, TX, USA 5Department of Psychiatry, Baylor College of Medicine, Houston, TX, USA 6Department of Pediatrics,...
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As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
