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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2020-12-01
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| Col·lecció: | American Journal of Ophthalmology Case Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2451993620301882 |
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