Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation-Reference-Cited by-同舟云学术

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

Published:2013-08-16 Issue:12 Volume:161 Page:3063-3071
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lesca Gaetan¹²,Moizard Marie-Pierre³⁴,Bussy Gerald⁵,Boggio Dominique¹,Hu Hao⁶,Haas Stefan A.⁷,Ropers Hans-Hilger⁶,Kalscheuer Vera M.⁶,Des Portes Vincent⁵,Labalme Audrey¹,Sanlaville Damien¹²,Edery Patrick¹²,Raynaud Martine³⁴,Lespinasse James⁸

Affiliation:

1. Service de Génétique and Centre de Référence des Anomalies du Développement; Hôpital Femme Mère Enfant; Hospices Civils de Lyon; Lyon France

2. INSERM U1028, CNRS; UMR5292; Lyon Neuroscience Research Center, TIGER Team; University Claude Bernard Lyon 1; Université de Lyon; Lyon France

3. INSERM U930; Tours France

4. Service de Génétique; CHRU de Tours; Tours France

5. Centre de Référence pour les Déficiences Intellectuelles Liées à l'X; Hôpital Femme Mère Enfant; Lyon France

6. Department of Human Molecular Genetics; Max Planck Institute for Molecular Genetics; Berlin Germany

7. Department of Computational Biology; Max Planck Institute for Molecular Genetics; Berlin Germany

8. Laboratoire de Génétique Chromosomique; Hôpital de Chambéry; Chambéry France

Funder

German Ministry of Education and Research

European Union Framework Program 7 (FP7)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36162/fullpdf

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