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Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Genes - 23 Nov 2022

Moreno-Artero Ester, Morice-Picard Fanny, Lasseaux Eulalie, Robert Matthieu P, Coste Valentine, Michaud Vincent, Leclerc-Mercier Stéphanie, Bremond-Gignac Dominique, Arveiler Benoit, Hadj-Rabia Smail

Abstract excerpt

Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but has been reported in all populations, including Europeans. Little is known about the genotype-phenotype correlation....

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PMID: 36553465
DOI: 10.3390/genes13122198
PMCID: PMC9777904

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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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