Senior–Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report
Abstract Background Senior–Løken syndrome is a rare autosomal recessive ciliopathy characterized by nephronophthisis and early-onset retinal dystrophy. It is typically diagnosed in childhood, and adult-onset diagnosis is rare and may delay renal-protective interventions. Here, we report a rare case...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2025-11-01
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| Col·lecció: | Journal of Medical Case Reports |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13256-025-05655-8 |
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