title: Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
authors.affiliation: Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Lonneke
authors.initials: L
authors.lastname: de Boer
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Marcel
authors.initials: M
authors.lastname: Karperien
authors.forename: Lotte
authors.initials: L
authors.lastname: van Beers
authors.forename: Jennifer
authors.initials: J
authors.lastname: Tjon
authors.forename: Geraldine R
authors.initials: GR
authors.lastname: Vink
authors.forename: Dewy
authors.initials: D
authors.lastname: van Tol
authors.forename: Hans
authors.initials: H
authors.lastname: Dauwerse
authors.forename: Saskia
authors.initials: S
authors.lastname: le Cessie
authors.forename: Frits A
authors.initials: FA
authors.lastname: Beemer
authors.forename: Ineke
authors.initials: I
authors.lastname: van der Burgt
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Ursula
authors.initials: U
authors.lastname: Kuhnle
authors.forename: Inge B
authors.initials: IB
authors.lastname: Mathijssen
authors.forename: Hermine E
authors.initials: HE
authors.lastname: Veenstra-Knol
authors.forename: Connie T Schrander
authors.initials: CT
authors.lastname: Stumpel
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Jan M
authors.initials: JM
authors.lastname: Wit
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005838:Genotype; D006330:Heart Defects, Congenital / 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 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human