ASH1L 相关的综合征性神经发育障碍的基因型和表型谱的扩展。
关键词: ASH1L Brain Gene Registry ClinGen GenomeConnect autism spectrum disorder histone methyltransferase intellectual disability neurodevelopmental disorder syndromic complex neurodevelopmental disorder
Mesh : Humans Neurodevelopmental Disorders / genetics pathology Phenotype Male Histone-Lysine N-Methyltransferase / genetics Female Child Genotype DNA-Binding Proteins / genetics Intellectual Disability / genetics pathology Transcription Factors / genetics Child, Preschool Autism Spectrum Disorder / genetics pathology Mutation Adolescent
来 源:
DOI:10.3390/genes15040423
PDF(Pubmed)