Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance-Reference-Cited by-同舟云学术

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Published:2008-10-15 Issue:4 Volume:17 Page:434-443
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Clayton-Smith Jill,Walters Sarah,Hobson Emma,Burkitt-Wright Emma,Smith Rupert,Toutain Annick,Amiel Jeanne,Lyonnet Stanislas,Mansour Sahar,Fitzpatrick David,Ciccone Roberto,Ricca Ivana,Zuffardi Orsetta,Donnai Dian

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008192.pdf

Reference25 articles.

1. Meins M, Lehmann J, Gerresheim F et al: Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 2005; 42: e12.

2. Van Esch H, Bauters M, Ignatius J et al: Duplication of the MECP2 Region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005; 77: 442–453.

3. Sanlaville D, Prieur M, de Blois M-C et al: Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005; 13: 579–585.

4. Smyk M, Obersztyn E, Nowakowska B et al: Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 799–806.

5. Friez MJ, Jones JR, Clarkson K et al: Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006; 118: e1687–e1695.

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