New Framework Illuminates Genetic and Molecular Layers in Autism Spectrum Disorder
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A new review proposes a three-layer framework linking genes, biological pathways, and clinical features to better understand syndromic and non-syndromic autism spectrum disorder.
New SMARCA4 Mutation Linked to Coffin-Siris Syndrome Type 4 with Autism but Without Visual Impairment
A novel SMARCA4 mutation causing Coffin-Siris syndrome type 4 with autism but without typical visual or finger abnormalities was identified in a young patient, expanding the known clinical spectrum.
Study Explores Shared Genetic Factors in Childhood Heart Defects and Neurodevelopmental Disorders
A recent study using multiomic profiling highlights shared genetic and epigenetic factors in children with congenital heart disease and neurodevelopmental disorders, offering new insights into their co-occurrence.