New Insights Into DHX30-Related Neurodevelopmental Disorder: Case Report and Comprehensive Review
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A new case report and review expand understanding of DHX30-related neurodevelopmental disorder, highlighting a novel ear anomaly and reinforcing the role of whole exome sequencing in diagnosis.
New Genetic Variant in TBL1XR1 Linked to Generalized Dystonia in Adult Patient
A new genetic variant in the TBL1XR1 gene may be linked to generalized dystonia, expanding the known disease spectrum beyond neurodevelopmental disorders like Pierpont syndrome and autism.
Advances and Challenges in Machine Learning for Autism Genomic Research
A recent review evaluates machine learning advances in autism genomic research, highlighting progress in gene expression, sequencing, microbiome analysis, and challenges like bias and interpretability.