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Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Bada-Bosch T, Sevillano AM, Teresa Sánchez-Calvin M, Palma-Milla C, Alba de Cáceres I, Díaz-Crespo F, Trujillo H, Alonso M, Cases-Corona C, Shabaka A, Quesada-Espinosa JF, Rosales JML, Gutiérrez E, Fernández-Juárez G, Caravaca-Fontán F, Praga M. Bada-Bosch T, et al. Among authors: rosales jml. Nephrol Dial Transplant. 2024 Jan 4:gfae002. doi: 10.1093/ndt/gfae002. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38178635
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP. Arteche-López A, et al. Among authors: rosales jml. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766