Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

Abnormalities, Multiple/genetics,pathology Adolescent Adult Carrier Proteins/genetics Child Child, Preschool DNA/chemistry,genetics DNA Mutational Analysis Female Gene Deletion Growth Disorders/pathology Histone Methyltransferases Histone-Lysine N-Methyltransferase Humans Intellectual Disability/pathology Intracellular Signaling Peptides and Proteins Male Mutation Nuclear Proteins/genetics Syndrome

Carrier Proteins Intracellular Signaling Peptides and Proteins Nuclear Proteins DNA Histone Methyltransferases Histone-Lysine N-Methyltransferase NSD1 protein, human