GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

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Title: GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.
Authors: Failla P; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Muto V; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy.; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Lauri A; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Saccuzzo L; Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Arena A; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Expanded Neonatal Screening and Inherited Metabolic Diseases, AOU Policlinico, PO 'G. Rodolico', 95100 Catania, Italy., Fasano G; Research laboratories, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Guerrot AM; Inserm U1245, Department of Genetics and Reference Center for Developmental Abnormalities, CHU Rouen, University of Rouen Normandie, 76000 Rouen, France., Lecoquierre F; Inserm U1245, Department of Genetics and Reference Center for Developmental Abnormalities, CHU Rouen, University of Rouen Normandie, 76000 Rouen, France.; Laboratoire SeqOIA, 75014 Paris, France., Ciolfi A; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Zara E; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy.; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Motta M; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Elia M; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Department of Medicine and Surgery, Kore University of Enna, 94100 Enna, Italy., Greco D; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Avola E; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Spalletta A; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Schinocca P; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Salemi M; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Salluzzo MG; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Galesi O; Oasi Research Institute-IRCCS, 94018 Troina, Italy., De Billy E; Oncohematology and Pharmaceutical Factory Research Area, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Petrini S; Research laboratories, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy., Priolo M; Medical and Molecular Genetics, AORN 'Antonio Cardarelli', 80131 Naples, Italy., Bertini ES; Unit of Muscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy., Romano C; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Fichera M; Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Tartaglia M; Molecular Genetics and Functional Genomics Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy.
Source: Brain : a journal of neurology [Brain] 2026 Jun 26. Date of Electronic Publication: 2026 Jun 26.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1460-2156
DOI:10.1093/brain/awag223