Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures-Reference-Cited by-同舟云学术

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Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Published:2009-11-11 Issue:4 Volume:18 Page:436-441
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Williams Stephen R,Mullegama Sureni V,Rosenfeld Jill A,Dagli Aditi I,Hatchwell Eli,Allen William P,Williams Charles A,Elsea Sarah H

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009199.pdf

Reference18 articles.

1. Jedele KB : The overlapping spectrum of Rett and Angelman syndromes: a clinical review. Semin Pediatr Neurol 2007; 14: 108–117.

2. de Vries BB, Pfundt R, Leisink M et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606–616.

3. Jaillard S, Dubourg C, Gerard-Blanluet M et al: 2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features? J Med Genet 2008, PMID: 18812405.

4. Koolen DA, Vissers LE, Nillesen W et al: A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. Clin Genet 2004; 65: 429–432.

5. Vissers LE, de Vries BB, Osoegawa K et al: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003; 73: 1261–1270.

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