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Renal involvement and Strømme syndrome
Strømme syndrome is a rare autosomal recessive congenital disorder involving multiple systems. Centromeric protein F (CENPF) is the causative gene of the disease, and variants are usually linked to lethal outcomes either during the foetal stage or in early life. We present a young adult with a genet...
Autores principales: | Caridi, Gianluca, Lugani, Francesca, Lerone, Margherita, Divizia, Maria Teresa, Ghiggeri, Gian Marco, Verrina, Enrico |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857842/ https://www.ncbi.nlm.nih.gov/pubmed/33564452 http://dx.doi.org/10.1093/ckj/sfz189 |
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