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. |
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| 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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| ISSN: | 2296-2360 |
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| DOI: | 10.3389/fped.2026.1794137 |
