Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
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DOI: 10.1002/humu.24332
Abstract: PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder… read more here.
Keywords: neurodevelopmental syndrome; pax5 haploinsufficiency; delineation novel; syndrome associated ... See more keywords