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Auditory and Otologic Profile of Alström Syndrome: Comprehensive Single Center Data on 38 Patients
Alström syndrome is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5526054/ https://ncbi.nlm.nih.gov/pubmed/28573831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38316 |
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