Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
Abstract 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 Diag...
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Autores principales: | C. C. Kruijt, N. E. Schalij-Delfos, G. C. de Wit, R. J. Florijn, M. M. van Genderen |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/c0eceddb3d1d42a9bc2f8adaa5d3d096 |
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