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Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

  • Published:2006-07-05 Issue:11 Volume:14 Page:1189-1194
  • ISSN:1018-4813
  • Container-title:European Journal of Human Genetics
  • language:en
  • Short-container-title:Eur J Hum Genet

Author:

Knudsen Gun Peggy S,Neilson Tracey C S,Pedersen June,Kerr Alison,Schwartz Marianne,Hulten Maj,Bailey Mark E S,Ørstavik Karen Helene

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Hagberg B : Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8: 61–65.

2. Amir RE, Van dV I, Wan M, Tran CQ, Francke U, Zoghbi HY : Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185–188.

3. Belmont JW : Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101–1108.

4. Naumova AK, Plenge RM, Bird LM et al: Heritability of X chromosome – inactivation phenotype in a large family. Am J Hum Genet 1996; 58: 1111–1119.

5. Puck JM, Willard HF : X inactivation in females with X-linked disease. N Engl J Med 1998; 338: 325–328.
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