Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

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作者： Ester,Di Muro ^[1] ; Pietro,Palumbo ^[1] ; Mario,Benvenuto ^[1] ; Maria,Accadia ^[2] ; Marilena Carmela,Di Giacomo ^[3] ; Sergio,Manieri ^[4] ; Rosaria,Abate ^[4] ; Maria,Tagliente ^[4] ; Stefano,Castellana ^[5] ; Tommaso,Mazza ^[5] ; Massimo,Carella ^[1] ; Orazio,Palumbo ^[1]

作者单位： Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy. ^[1] Medical Genetics Service, Hospital "Cardinale G. Panico", 73039 Tricase (Lecce), Italy. ^[2] U.O.C di Anatomia Patologica, AOR Ospedale "San Carlo", 85100 Potenza, Italy. ^[3] U.O.C di Pediatria, AOR Ospedale "San Carlo", 85100 Potenza, Italy. ^[4] Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy. ^[5]

关键词 STAG1 neurodevelopmental disorders whole exome sequencing

主题词儿童, 学龄前(Child, Preschool);女(雌)性(Female);移码突变(Frameshift Mutation);人类(Humans);男(雄)性(Male);核蛋白质类(Nuclear Proteins);系谱(Pedigree)

DOI 10.3390/genes12081116

PMID 34440290

发布时间 2022-02-11

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