A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.
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| Title: | A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS. |
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| Authors: | Innamorato S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Basso SL; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Belakhdar O; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Bruttini M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Fallerini C; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Huseynli H; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Caccialupi G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Pasquinelli E; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Adduci M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Signori G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Arcuri F; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Malagnino V; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Siciliano MC; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Lazzi S; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Pesaresi S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Galimberti D; Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Galluzzi P; Unit of NeuroImaging and NeuroIntervention, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., De Francesco S; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Hadijstillanou T; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Ariani F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy. |
| Source: | Genes [Genes (Basel)] 2025 Nov 22; Vol. 16 (12). Date of Electronic Publication: 2025 Nov 22. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes16121399 |
