title: Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: N
authors.initials: N
authors.lastname: Kurotaki
authors.forename: N
authors.initials: N
authors.lastname: Harada
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: Y
authors.initials: Y
authors.lastname: Makita
authors.forename: T
authors.initials: T
authors.lastname: Sugimoto
authors.forename: T
authors.initials: T
authors.lastname: Sonoda
authors.forename: T
authors.initials: T
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Uetake
authors.forename: S
authors.initials: S
authors.lastname: Sakazume
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000473:pathology*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D004247:DNA; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human