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Article

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Ophthalmic genetics - 1 Jun 2021

Kessel Line, Kjer Birgit, Lei Ulrikke, Duno Morten, Grønskov Karen

Abstract excerpt

BACKGROUND: The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. MATERIALS AND METHODS: Genotype-phenotype associations in patients with a clinical diagnosis of albinism were studied based on imaging of hair and ocular features (nystagmus, iris color and translucency,...

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Identifiers

PMID: 33612058
DOI: 10.1080/13816810.2021.1881979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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