title: Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
authors.affiliation: Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, 00161 Rome, Italy. childneurology.sapienzaroma@live.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Luigi
authors.initials: L
authors.lastname: Tarani
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Marina
authors.initials: M
authors.lastname: Grasso
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Cecconi
authors.forename: Claudio Di
authors.initials: CD
authors.lastname: Biasi
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ursitti
authors.forename: Paola
authors.initials: P
authors.lastname: Iannetti
mesh_terms: D002675:Child, Preschool; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D058495:Sotos Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human