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GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

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Title: GAPO syndrome: a comprehensive examination and review of 105 clinical cases.
Authors: Modafferi C; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy clarissamodafferi@libero.it., D'Ambrosio P; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy., Andaloro S; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy., Lauretti G; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy., Antignani F; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy., Pompili M; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.; Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Giuliante F; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.; Department of Gastroenterological, Endocrine, Metabolic and Nephro-Urological Sciences, General Surgery and Hepatobiliary Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Biolato M; UOC Medicina Interna e del Trapianto di Fegato, Fondazione Policlinico Universitario Gemelli IRCCS, Dipartimento di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Rome, Italy., Niccolini B; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy., Fargnoli A; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy., Bogliardi F; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy., Concolino P; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy., Zampino G; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy., Minucci A; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy., Genuardi M; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy., Tabolacci E; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy., Chiurazzi P; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
Source: Journal of medical genetics [J Med Genet] 2025 Sep 17. Date of Electronic Publication: 2025 Sep 17.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: GAPO syndrome: a comprehensive examination and review of 105 clinical cases.
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  Data: <searchLink fieldCode="AU" term="%22Modafferi+C%22">Modafferi C</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy clarissamodafferi@libero.it.<br /><searchLink fieldCode="AU" term="%22D'Ambrosio+P%22">D'Ambrosio P</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Andaloro+S%22">Andaloro S</searchLink>; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Lauretti+G%22">Lauretti G</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Antignani+F%22">Antignani F</searchLink>; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pompili+M%22">Pompili M</searchLink>; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.; Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Giuliante+F%22">Giuliante F</searchLink>; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.; Department of Gastroenterological, Endocrine, Metabolic and Nephro-Urological Sciences, General Surgery and Hepatobiliary Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Biolato+M%22">Biolato M</searchLink>; UOC Medicina Interna e del Trapianto di Fegato, Fondazione Policlinico Universitario Gemelli IRCCS, Dipartimento di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Niccolini+B%22">Niccolini B</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fargnoli+A%22">Fargnoli A</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bogliardi+F%22">Bogliardi F</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Concolino+P%22">Concolino P</searchLink>; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Minucci+A%22">Minucci A</searchLink>; Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Genuardi+M%22">Genuardi M</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tabolacci+E%22">Tabolacci E</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Chiurazzi+P%22">Chiurazzi P</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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