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Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

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第一作者： Gioia,Mastromoro

第一单位： Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy.

作者： Gioia,Mastromoro ^[1] ; Anna,Capalbo ^[2] ; Cristiana Alessia,Guido ^[3] ; Barbara,Torres ^[2] ; Maria,Fabbretti ^[2] ; Alice,Traversa ^[2] ; Antonella,Giancotti ^[4] ; Flavia,Ventriglia ^[5] ; Laura,Bernardini ^[2] ; Alberto,Spalice ^[3] ; Antonio,Pizzuti ^[6]

作者单位： Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy. ^[1] Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy. ^[2] Department of Pediatrics, Division of Child Neurology, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy. ^[3] Department of Obstetrics, Gynecology and Urologic Sciences, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy. ^[4] Department of Pediatrics, Pediatric Cardiology, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy. ^[5] Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy. Electronic address: antonio.pizzuti@uniroma1.it. ^[6]

关键词 7p22.3 deletion Mosaic deletion SNX8 Tetralogy of fallot