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Article

Clinical and mutational characteristics of oculocutaneous albinism type 7.

Scientific reports - 30 Mar 2024

Kruijt C C, de Wit G C, van Minderhout H M, Schalij-Delfos N E, van Genderen M M

Abstract excerpt

The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compared them with all patients described to date in the literature. All newly described patients had severely reduced visual acuity (VA), nystagmus, hypopigmentation of the fundus, severe...

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Share to Albinism, Ocular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38555393
DOI: 10.1038/s41598-024-57969-0
PMCID: PMC10981718

Provenance

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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