Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
Deardorff
Matthew A
MA
Division of Clinical Genetics, Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA.
Maisenbacher
Melissa
M
Zackai
Elaine H
EH
D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D005145:Face / Q000002:abnormalities; D018303:Ganglioglioma / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D012307:Risk Factors; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D016335:Zinc Fingers
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human