Dysfunction ofSHANK2andCHRNA7in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci-Reference-Cited by-同舟云学术

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Dysfunction ofSHANK2andCHRNA7in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

Published:2013-02-21 Issue:6 Volume:84 Page:560-565
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Chilian B¹,Abdollahpour H¹,Bierhals T¹,Haltrich I²,Fekete G²,Nagel I³,Rosenberger G¹,Kutsche K¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

2. II Department of Pediatrics; Semmelweis University of Medicine Budapest; Budapest Hungary

3. Institute of Human Genetics; Christian-Albrechts University Kiel and University Hospital Schleswig-Holstein; Kiel Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies;Grabrucker;Trends Cell Biol,2011

2. Synaptopathies: diseases of the synaptome;Grant;Curr Opin Neurobiol,2012

3. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation;Berkel;Nat Genet,2010

4. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders;Leblond;PLoS Genet,2012

5. Contribution of SHANK3 mutations to autism spectrum disorder;Moessner;Am J Hum Genet,2007

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