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Ocular findings in patients with the Hermansky-Pudlak syndrome (types 1 and 3)

PURPOSE: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS: This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of sele...

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Detalhes bibliográficos
Publicado no:Ophthalmic Genet
Main Authors: Jardón, Javier, Izquierdo, Natalio J., Renta, Jessica Y, García-Rodríguez, Omar, Cadilla, Carmen L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4232478/
https://ncbi.nlm.nih.gov/pubmed/24766090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2014.907920
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