A Case Report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
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Abstract
Abstract Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1.
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- last seen: 2026-05-19T01:45:01.086888+00:00