Genetic & Genomic MedicinemedRxivPreprint
De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia
Kevin T. A. Booth, Sharayu V. Jangam, Martin Man Chun Chui…·Francesco Vetrini
The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.
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