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...
Gardado en:
| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1186/s13023-024-03509-y |
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