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
Description
ISSN:1866-1955
DOI:10.1186/s11689-026-09705-0