关键词: ARID1B Coffin-Siris syndrome Corpus callosum agenesis Global developmental delay
Mesh : Abnormalities, Multiple / etiology pathology DNA-Binding Proteins / genetics Face / abnormalities pathology Female Frameshift Mutation Hand Deformities, Congenital / etiology pathology Humans Infant Intellectual Disability / etiology pathology Male Micrognathism / etiology pathology Neck / abnormalities pathology Prognosis Republic of Korea Transcription Factors / genetics