MEF2Chaploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

 

作者: NLe Meur,   MHolder-Espinasse,   SJaillard,   AGoldenberg,   SJoriot,   PAmati-Bonneau,   AGuichet,   MBarth,   ACharollais,   HJournel,   SAuvin,   CBoucher,   J-PKerckaert,   VDavid,   SManouvrier-Hanu,   PSaugier-Veber,   TFrébourg,   CDubourg,   JAndrieux,   DBonneau,  

 

期刊: Journal of Medical Genetics  （BMJ Available online 2009）
卷期: Volume 47, issue 1  

页码: 22-29

 

ISSN:0022-2593

 

年代: 2009

 

出版商: J Med Genet

 

数据来源: BMJ

 

 

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