Xq25 duplications encompassingGRIA3andSTAG2genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance-Reference-Cited by-同舟云学术

Xq25 duplications encompassingGRIA3andSTAG2genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

Published:2013-05-01 Issue:6 Volume:161 Page:1370-1375
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Philippe Anne¹,Malan Valérie¹,Jacquemont Marie-Line¹,Boddaert Nathalie²,Bonnefont Jean-Paul¹,Odent Sylvie³,Munnich Arnold¹,Colleaux Laurence¹,Cormier-Daire Valérie¹

Affiliation:

1. Université Paris Descartes, INSERM U 781 & Département de Génétique; Hôpital Necker-Enfants Malades; Paris; France

2. Service d'Imagerie Pédiatrique; Hôpital Necker-Enfants Malades; Paris; France

3. Université Rennes1, UMR6061 CNRS & Service de Génétique Clinique; Centre Hospitalier Universitaire de Rennes, Hôpital Sud; Rennes; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35307/fullpdf

Reference14 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation;Bernheim;Cytogenet Genome Res,2007

3. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation;Bonnet;Am J Med Genet Part A,2009

4. Partial tandem duplication of GRIA3 in a male with mental retardation;Chiyonobu;Am J Med Genet Part A,2007

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