title: Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
authors.forename: P
authors.initials: P
authors.lastname: Höglund
authors.forename: N
authors.initials: N
authors.lastname: Kurotaki
authors.forename: S
authors.initials: S
authors.lastname: Kytölä
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: M
authors.initials: M
authors.lastname: Somer
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000328:Adult; D020029:Base Pairing / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005220:Fathers; D005799:Genes, Dominant / Q000235:genetics; D005877:Gigantism / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009679:Nuclear Family; D009687:Nuclear Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human