Article
Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant.
Genes - 24 Nov 2023
Yip Silas, Calli Kristina, Qiao Ying, Trost Brett, Scherer Stephen W, Lewis M E Suzanne
Abstract excerpt
Autism spectrum disorder (ASD) comprises a group of complex neurodevelopmental features seen in many different forms due to variable causes. Highly impactful ASD-susceptibility genes are involved in pathways associated with brain development, chromatin remodeling, and transcription regulation. In this study, we investigate a proband with complex ASD. Whole genome sequencing revealed a novel de novo missense...
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