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Ocular evaluation and genetic test for an early Alström Syndrome diagnosis
PURPOSE: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. OBSERVATIONS: The first case is of a 2-year-old boy with history of spasmus nutans who presented...
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| Publicado no: | Am J Ophthalmol Case Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7481517/ https://ncbi.nlm.nih.gov/pubmed/32944671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2020.100873 |
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