Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
Nagai
T
T
Matsumoto
N
N
Kurotaki
N
N
Harada
N
N
Niikawa
N
N
Ogata
T
T
Imaizumi
K
K
Kurosawa
K
K
Kondoh
T
T
Ohashi
H
H
Tsukahara
M
M
Makita
Y
Y
Sugimoto
T
T
Sonoda
T
T
Yokoyama
T
T
Uetake
K
K
Sakazume
S
S
Fukushima
Y
Y
Naritomi
K
K
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000473:pathology*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D004247:DNA; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human