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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Detalles Bibliográficos
Autores principales: Etheridge, Tyler, Kellom, Elizabeth R., Sullivan, Rachel, Ver Hoeve, James N., Schmitt, Melanie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481517/
https://www.ncbi.nlm.nih.gov/pubmed/32944671
http://dx.doi.org/10.1016/j.ajoc.2020.100873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481517/
https://www.ncbi.nlm.nih.gov/pubmed/32944671
http://dx.doi.org/10.1016/j.ajoc.2020.100873

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