NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Am J Hum Genet. 2003 Jan;72(1):132-43. doi: 10.1086/345647. Epub 2002 Dec 2.
Am J Hum Genet. 2003.
PMID: 12464997
Free PMC article.