关键词: NGS NSD1 gene macrocephaly overgrowth seizures
Mesh : Asians / genetics Child, Preschool Female Histone-Lysine N-Methyltransferase / genetics Humans India / epidemiology Infant Intellectual Disability / genetics pathology Male Mutation Phenotype Sotos Syndrome / genetics pathology
来 源:
DOI:10.1002/ajmg.a.61751
PDF(Sci-hub)