title: Identification of eight novel NSD1 mutations in Sotos syndrome.
authors: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors: J
authors: J
authors: Kamimura
authors: Y
authors: Y
authors: Endo
authors: N
authors: N
authors: Kurotaki
authors: A
authors: A
authors: Kinoshita
authors: N
authors: N
authors: Miyake
authors: O
authors: O
authors: Shimokawa
authors: N
authors: N
authors: Harada
authors: R
authors: R
authors: Visser
authors: H
authors: H
authors: Ohashi
authors: K
authors: K
authors: Miyakawa
authors: J
authors: J
authors: Gerritsen
authors: A M
authors: AM
authors: Innes
authors: L
authors: L
authors: Lagace
authors: M
authors: M
authors: Frydman
authors: N
authors: N
authors: Okamoto
authors: R
authors: R
authors: Puttinger
authors: S
authors: S
authors: Raskin
authors: B
authors: B
authors: Resic
authors: V
authors: V
authors: Culic
authors: K
authors: K
authors: Yoshiura
authors: T
authors: T
authors: Ohta
authors: T
authors: T
authors: Kishino
authors: M
authors: M
authors: Ishikawa
authors: N
authors: N
authors: Niikawa
authors: N
authors: N
authors: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009679:Nuclear Family; D009687:Nuclear Proteins / Q000235:genetics*; D011237:Predictive Value of Tests
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