Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

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作者： Esplin,E.D. ^[1] ; Li,B. ^[2] ; Slavotinek,A. ^[3] ; Novelli,A. ^[4] ; Battaglia,A. ^[5] ; Clark,R. ^[6] ; Curry,C. ; Hudgins,L.

作者单位： Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy ^[1] Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine ^[2] Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San ^[3] The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry ^[4] Division of Medical Genetics, Department of Pediatrics, Loma Linda University, Loma Linda, CA ^[5] Division of Medical Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, United States ^[6]

关键词 Chromosomal duplication Copy-number Developmental delay Epilepsy Seizures Talipes

发布时间 2014-10-24

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