Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura
J
J
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Endo
Y
Y
Kurotaki
N
N
Kinoshita
A
A
Miyake
N
N
Shimokawa
O
O
Harada
N
N
Visser
R
R
Ohashi
H
H
Miyakawa
K
K
Gerritsen
J
J
Innes
A M
AM
Lagace
L
L
Frydman
M
M
Okamoto
N
N
Puttinger
R
R
Raskin
S
S
Resic
B
B
Culic
V
V
Yoshiura
K
K
Ohta
T
T
Kishino
T
T
Ishikawa
M
M
Niikawa
N
N
Matsumoto
N
N
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
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human