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A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
BACKGROUND: 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 change...
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| Pubblicato in: | BMC Ophthalmol |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6898930/ https://ncbi.nlm.nih.gov/pubmed/31810438 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-019-1259-y |
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