Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Ce...

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Detalles Bibliográficos
Autores principales: Kruijt, C. C., Schalij-Delfos, N. E., de Wit, G. C., Florijn, R. J., van Genderen, M. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172864/
https://www.ncbi.nlm.nih.gov/pubmed/34078970
http://dx.doi.org/10.1038/s41598-021-90896-y

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