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Politano D, Borgatti R, Borgonovi G, Cistaro A, Danesino C, Fania P, Garghetti G, Guala A, Orlando I, Schiera IG, et al. Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, ¹⁸FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review. Genes. 2025; 16(10):1174. https://doi.org/10.3390/genes16101174

Politano, Davide, Renato Borgatti, Giulia Borgonovi, Angelina Cistaro, Cesare Danesino, Piercarlo Fania, Gaia Garghetti, Andrea Guala, Isabella Orlando, Irene Giovanna Schiera, and et al. 2025. "Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, ¹⁸FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review" Genes 16, no. 10: 1174. https://doi.org/10.3390/genes16101174

Politano, D., Borgatti, R., Borgonovi, G., Cistaro, A., Danesino, C., Fania, P., Garghetti, G., Guala, A., Orlando, I., Schiera, I. G., Scotti, C., Sirchia, F., Romaniello, R., Visani, G., Vurchio, D., Mellone, S., & Giordano, M. (2025). Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, ¹⁸FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review. Genes, 16(10), 1174. https://doi.org/10.3390/genes16101174