A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Georgios Kellaris, Kamal Khan, Shahid M. Baig, I. Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz, Nicholas Katsanis

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45 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

Neuroscience