Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
Höglund
P
P
Kurotaki
N
N
Kytölä
S
S
Miyake
N
N
Somer
M
M
Matsumoto
N
N
D000328:Adult; D020029:Base Pairing / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005220:Fathers; D005799:Genes, Dominant / Q000235:genetics; D005877:Gigantism / 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; D008297:Male; D009679:Nuclear Family; D009687:Nuclear Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human