Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

PURPOSE: Albinism is a group of genetic disorders that includes several conditions related to a defect in melanin production. There is a broad phenotypic and genotypic variability between the different forms. The aim of this study was to assess the ophthalmologic characteristics according to patient...

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Detalles Bibliográficos
Autores principales: Seguy, Paul-Henri, Korobelnik, Jean-François, Delyfer, Marie-Noëlle, Michaud, Vincent, Arveiler, Benoit, Lasseaux, Eulalie, Gattoussi, Sarra, Rougier, Marie-Bénédicte, Trin, Kilian, Morice-Picard, Fanny, Ghomashchi, Nathalie, Coste, Valentine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506686/
https://www.ncbi.nlm.nih.gov/pubmed/37707835
http://dx.doi.org/10.1167/iovs.64.12.26

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506686/
https://www.ncbi.nlm.nih.gov/pubmed/37707835
http://dx.doi.org/10.1167/iovs.64.12.26

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