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Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.

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Title: Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.
Authors: Savasta S; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy.; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy., Comisi FF; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy. francesco.f.comisi@gmail.com., Dell'Isola GB; Department of Medicine and Surgery, Saint Camillus International University of Health Sciences, Rome, Italy.; Department of Developmental Disabilities, IRCCS San Raffaele Roma, Rome, Italy., Di Pasquale G; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy., Johnson I; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Herman I; Boystown National Research Hospital, Boystown, NE, USA., Comisi AM; Department of Clinical and Experimental Medicine, University of Catania, Catania, 95131, Italy., Operto FF; Institute of Neurology, Department of Health Sciences Centre for Research in Unusual Infections, Epilepsy and Neuroscience (CRUISE), Magna Graecia University, Catanzaro, 88100, Italy., Bargiacchi G; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Caserta, Italy., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Mangano GD; Department of Medicine and Surgery, University of Enna Kore, Enna, Italy., Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Caserta, Italy., Salpietro V; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.; European Brain Research Institute 'Rita Levi-Montalcini' Viale Regina Elena, Rome, Italy., Verrotti A; Department of Pediatrics, University of Perugia, Perugia, Italy.
Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2026 Jul 10; Vol. 18 (1). Date of Electronic Publication: 2026 Jul 10.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.
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  Data: <searchLink fieldCode="AU" term="%22Savasta+S%22">Savasta S</searchLink>; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy.; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Comisi+FF%22">Comisi FF</searchLink>; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy. francesco.f.comisi@gmail.com.<br /><searchLink fieldCode="AU" term="%22Dell'Isola+GB%22">Dell'Isola GB</searchLink>; Department of Medicine and Surgery, Saint Camillus International University of Health Sciences, Rome, Italy.; Department of Developmental Disabilities, IRCCS San Raffaele Roma, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Pasquale+G%22">Di Pasquale G</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Johnson+I%22">Johnson I</searchLink>; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Herman+I%22">Herman I</searchLink>; Boystown National Research Hospital, Boystown, NE, USA.<br /><searchLink fieldCode="AU" term="%22Comisi+AM%22">Comisi AM</searchLink>; Department of Clinical and Experimental Medicine, University of Catania, Catania, 95131, Italy.<br /><searchLink fieldCode="AU" term="%22Operto+FF%22">Operto FF</searchLink>; Institute of Neurology, Department of Health Sciences Centre for Research in Unusual Infections, Epilepsy and Neuroscience (CRUISE), Magna Graecia University, Catanzaro, 88100, Italy.<br /><searchLink fieldCode="AU" term="%22Bargiacchi+G%22">Bargiacchi G</searchLink>; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mangano+GD%22">Mangano GD</searchLink>; Department of Medicine and Surgery, University of Enna Kore, Enna, Italy.<br /><searchLink fieldCode="AU" term="%22Carotenuto+M%22">Carotenuto M</searchLink>; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.; European Brain Research Institute 'Rita Levi-Montalcini' Viale Regina Elena, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Verrotti+A%22">Verrotti A</searchLink>; Department of Pediatrics, University of Perugia, Perugia, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101483832%22">Journal of neurodevelopmental disorders</searchLink> [J Neurodev Disord] 2026 Jul 10; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Jul 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101483832 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1866-1955 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218661947%22">18661947 </searchLink><i>NLM ISO Abbreviation: </i>J Neurodev Disord <i>Subsets: </i>MEDLINE
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              Text: 2026 Jul 10
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