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Hum Genome Var. 2024 Jan 5;11(1):1. doi: 10.1038/s41439-023-00260-x.
ABSTRACT
DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor delay was observed at 2 years of age, and she was diagnosed with autism spectrum disorder and attention-deficit/hyperactivity disorder. Recognizing the possibility of DLG4-related synaptopathy in patients with intellectual regression is important for ensuring an accurate diagnosis.
PMID:38182567 | DOI:10.1038/s41439-023-00260-x
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
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