Identification of disruptedAUTS2andEPHA6genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder-Reference-Cited by-同舟云学术

Identification of disruptedAUTS2andEPHA6genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

Published:2015-09-03 Issue:12 Volume:167 Page:3031-3037
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Schneider Anouck¹,Puechberty Jacques²,Ng Bee Ling³,Coubes Christine²,Gatinois Vincent¹,Tournaire Magali¹,Girard Manon¹,Dumont Bruno¹,Bouret Pauline¹,Magnetto Julia⁴,Baghdadli Amaria⁴,Pellestor Franck¹,Geneviève David¹²

Affiliation:

1. Laboratoire de Génétique Chromosomique, Plateforme de puces à ADN; CHRU de Montpellier; France

2. Département de Génétique Médicale; CHRU de Montpellier; France

3. Cytometry Core Facility; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus; Hinxton Cambridge United Kingdom

4. CRA, Département de Psychiatrie de l'Enfant et de l'Adolescent, Centre de Ressources Autisme; CHRU de Montpellier; France

Funder

Regional University Hospital of Montpellier

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37350/fullpdf

Reference50 articles.

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4. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome;Beunders;Eur J Hum Genet,2014

5. Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing;Chen;Eur J Hum Genet,2010

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