Articles with "patients oculocutaneous" as a keyword



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

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-90896-y

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… read more here.

Keywords: oculocutaneous albinism; patients oculocutaneous; foveal hypoplasia; dutch patients ... See more keywords