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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
BACKGROUND: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain–hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25–30% patients although only ∼18% had a confirmed diagnosis of chronic kidney di...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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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/PMC7417010/ https://www.ncbi.nlm.nih.gov/pubmed/30403813 http://dx.doi.org/10.1093/ndt/gfy333 |