14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype-Reference-Cited by-同舟云学术

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Published:2012-09-12 Issue:5 Volume:21 Page:522-527
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ellaway Carolyn J,Ho Gladys,Bettella Elisa,Knapman Alisa,Collins Felicity,Hackett Anna,McKenzie Fiona,Darmanian Artur,Peters Gregory B,Fagan Kerry,Christodoulou John

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012208.pdf

Reference36 articles.

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2. Amir RE, Fang P, Yu Z et al: Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 2005; 42: e15.

3. Weaving LS, Christodoulou J, Williamson SL et al: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004; 75: 1079–1093.

4. White R, Ho G, Schmidt S et al: Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Ret Hum Genet 2010; 13: 168–178.

5. Tao J, Van Esch H, Hagedorn-Greiwe M et al: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004; 75: 1149–1154.

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