Alström syndrome-wide clinical variability within the same variant: a case report and literature review
BackgroundAlström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal dysfunction. The disease exhibits marked interindividua...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2024-09-01T00:00:00Z.
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