title: Deletion of NSD1 exon 14 in Sotos syndrome: first description.
authors.affiliation: Unitá Operativa di pediatria e Terapia Intensiva Neonatale, Dipartimento Materno-Infantile, Universitá degli Studi di Palermo, Palermo 90127, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Valeria
authors.initials: V
authors.lastname: Consiglio
authors.forename: Antonella
authors.initials: A
authors.lastname: Di Fiore
authors.forename: Marina
authors.initials: M
authors.lastname: Grasso
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Cecconi
authors.forename: Lucia
authors.initials: L
authors.lastname: Perroni
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D058495:Sotos Syndrome / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human