简短报告 : 一名患有 ARID1B 相关疾病的男孩的 10 年随访。早期干预,纵向维度表型 ,脑成像和结果。
关键词: 6q25 deletion/translocation ARID1B Intellectual disability Neurodevelopmental disorder
Mesh : Humans Male Child Intellectual Disability / genetics Transcription Factors / genetics Phenotype DNA-Binding Proteins / genetics Micrognathism / genetics diagnostic imaging Follow-Up Studies Face / abnormalities diagnostic imaging Brain / diagnostic imaging abnormalities Hand Deformities, Congenital / genetics diagnostic imaging Neck / abnormalities diagnostic imaging Attention Deficit Disorder with Hyperactivity / genetics Magnetic Resonance Imaging Neurodevelopmental Disorders / genetics Abnormalities, Multiple / genetics diagnostic imaging Developmental Disabilities / genetics Motor Skills Disorders / genetics Mutation Foot Deformities, Congenital / genetics diagnostic imaging Joint Instability / diagnostic imaging genetics
来 源: DOI:10.1016/j.ridd.2024.104769