Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
http://link.springer.com/content/pdf/10.1186/s13039-016-0299-8.pdf
Reference40 articles.
1. Filges I, et al. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clin Genet. 2011;79(1):79–85.
2. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007;17(3):182–92.
3. Shaw-Smith C, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41(4):241–8.
4. de Vries BBA, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005;77(4):606–16.
5. Griswold AJ, et al. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet. 2012;21(15):3513–23.
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