Article

A Case Report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

2019-12-05

Abstract excerpt

<title>Abstract</title> <p>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.</p>

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Literature Corpus work: bd30290a-209d-52a1-9865-4a16b634736a
DOI: 10.21203/rs.2.9239/v4

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