Article

Alström syndrome: The Journey to Diagnosis

2024-10-11

Abstract excerpt

<title>Abstract</title> <p>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, cardiomyopathy and can affect the liver and kidneys and result in other associated complications. The condition is progressive, but it is important to no...

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Literature Corpus work: a8e6fd1f-f1ff-5934-a141-419681da988d
DOI: 10.21203/rs.3.rs-4650898/v1

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