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