Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome-Reference-Cited by-同舟云学术

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Published:2014-09-10 Issue:6 Volume:23 Page:803-807
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Beunders Gea,de Munnik Sonja A,Van der Aa Nathalie,Ceulemans Berten,Voorhoeve Els,Groffen Alexander J,Nillesen Willy M,Meijers-Heijboer Elizabeth J,Frank Kooy R^ORCID,Yntema Helger G,Sistermans Erik A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014173.pdf

Reference16 articles.

1. Beunders G, Voorhoeve E, Golzio C et al: Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet 2013; 92: 210–220.

2. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S : De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet 2014; 164: 958–965.

3. Bakkaloglu B, O'Roak BJ, Louvi A et al: Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008; 82: 165–173.

4. Girirajan S, Brkanac Z, Coe BP et al: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011; 7: e1002334.

5. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM : A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A 2010; 152A: 2112–2114.

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