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TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

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Title: TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.
Authors: Calvo M; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy., Reynolds G; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy., Luca M; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Cardaropoli S; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy., Salvo E; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, 23849 Lecco, Italy., Carelli I; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Rondot F; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy., Massuras S; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy., Carli D; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy., Marinoni R; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, 23849 Lecco, Italy., Mussa A; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy.
Source: Genes [Genes (Basel)] 2026 Jun 03; Vol. 17 (6). Date of Electronic Publication: 2026 Jun 03.
Publication Type: Journal Article; Systematic Review; Case Reports; Review
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.
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  Data: <searchLink fieldCode="AU" term="%22Calvo+M%22">Calvo M</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Reynolds+G%22">Reynolds G</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Postgraduate School of Pediatrics, Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Luca+M%22">Luca M</searchLink>; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Gregorio+E%22">Di Gregorio E</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Cardaropoli+S%22">Cardaropoli S</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Salvo+E%22">Salvo E</searchLink>; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, 23849 Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Carelli+I%22">Carelli I</searchLink>; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Rondot+F%22">Rondot F</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Massuras+S%22">Massuras S</searchLink>; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Marinoni+R%22">Marinoni R</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Bonaglia+MC%22">Bonaglia MC</searchLink>; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, 23849 Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, 10126 Turin, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jun 03; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 Jun 03.
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