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: Diana Jecan-Toader (Author), Adrian Trifa (Author), Bogdan Lucian (Author), Tudor Lucian Pop (Author), Simona Sorana Cainap (Author)
Format: Book
Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
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