Sotos syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-2-36.pdf
Reference54 articles.
1. Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB: Cerebral gigantism in childhood. N Engl J Med. 1964, 271: 109-116.
2. Schlesinger B: Gigantism (acromegalic in type). Proc R Soc Med. 1931, 24: 1352-1353.
3. Cole TRP, Hughes HE: Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994, 31: 20-32.
4. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinene Y, Tomita Ha Ha, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoyo N: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002, 30: 365-366. 10.1038/ng863.
5. Douglas J, Hanks S, Temple K, Davies S, Murray A, Upadhayaya M, Tomkins S, Hughes HE, Cole TRP, Rahman N: 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, 72: 132-143. 10.1086/345647.
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