Sotos syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201686.pdf
Reference31 articles.
1. Sotos JF, Dodge PR, Muirhead DD, Crawford JD, Talbot NB : A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 271: 109–116.
2. Cole TR, Hughes H : Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994; 31: 20–32.
3. Kurotaki N, Imaizumi K, Harada N et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366.
4. Douglas J, Hanks S, Temple IK et al: 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.
5. Rio M, Clech L, Amiel J et al: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003; 40: 436–440.
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