Alström syndrome: the journey to diagnosis
Abstract Background Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it i...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2025-01-01
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| Schriftenreihe: | Orphanet Journal of Rare Diseases |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s13023-024-03509-y |
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