Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
V
V
Malan
M C
MC
De Blois
M
M
Prieur
M C
MC
Perrier-Waill
C
C
Huguet-Nedjar
L
L
Gegas
C
C
Turleau
M
M
Vekemans
A
A
Munnich
S P
SP
Romana
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D007446:Chromosome Inversion; D019066:Facies; D005877:Gigantism; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human