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Article

Delineating the genetic heterogeneity of OCA in Hungarian patients.

European journal of medical research - 19 Jun 2017

Fábos Beáta, Farkas Katalin, Tóth Lola, Sulák Adrienn, Tripolszki Kornélia, Tihanyi Mariann, Németh Réka, Vas Krisztina, Csoma Zsanett, Kemény Lajos, Széll Márta, Nagy Nikoletta

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). METHODS: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate...

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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: 28629449
DOI: 10.1186/s40001-017-0262-0
PMCID: PMC5477306

Genes

OCA2
TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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