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Novel NFIX variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.

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Title: Novel NFIX variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.
Authors: Minerva M; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Pinto AM; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Toninelli F; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Francioni A; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Perilli L; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Laschi E; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Lonoce L; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Lotti F; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Curcio MR; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Fallerini C; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Renieri A; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Grosso S; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Source: Frontiers in pediatrics [Front Pediatr] 2026 Apr 10; Vol. 14, pp. 1794137. Date of Electronic Publication: 2026 Apr 10 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel NFIX variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.
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  Data: <searchLink fieldCode="AU" term="%22Minerva+M%22">Minerva M</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Pinto+AM%22">Pinto AM</searchLink>; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Toninelli+F%22">Toninelli F</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Francioni+A%22">Francioni A</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Perilli+L%22">Perilli L</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Laschi+E%22">Laschi E</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Lonoce+L%22">Lonoce L</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Lotti+F%22">Lotti F</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Curcio+MR%22">Curcio MR</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Fallerini+C%22">Fallerini C</searchLink>; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Grosso+S%22">Grosso S</searchLink>; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2026 Apr 10; Vol. 14, pp. 1794137. <i>Date of Electronic Publication: </i>2026 Apr 10 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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