Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes-Reference-Cited by-同舟云学术

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Published:2003-10-22 Issue:11 Volume:11 Page:858-865
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Türkmen Seval,Gillessen-Kaesbach Gabriele,Meinecke Peter,Albrecht Beate,Neumann Luitgard M,Hesse Volker,Palanduz Sükrü,Balg Stefanie,Majewski Frank,Fuchs Sigrun,Zschieschang Petra,Greiwe Monika,Mennicke Kirsten,Kreuz Friedmar R,Dehmel Harald J,Rodeck Burkhard,Kunze Jürgen,Tinschert Sigrid,Mundlos Stefan,Horn Denise

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201050.pdf

Reference16 articles.

1. Majewski F, Ranke M, Kemperdick H, Schmidt E : The Weaver syndrome: a rare type of primordial overgrowth. Eur J Pediatr 1981; 137: 277–282.

2. Opitz JM, Weaver DW, Reynolds Jr JF : The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998; 79: 294–304.

3. Maroun C, Schmerler S, Hutcheon RG : Child with Sotos phenotype and a 5:15 translocation. Am J Med Genet 1994; 50: 291–293.

4. Imaizumi K, Kimura J, Matsuo M et al: Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). Am J Med Genet 2002; 107: 58–60.

5. Kurotaki N, Imaizumi K, Harada N et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366.

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