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Article

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

The Journal of dermatology - 1 Feb 2026

Okamura Ken, Suzuki Tamio

Abstract excerpt

Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single-gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ocular, auditory, and systemic manifestations. This review examines the...

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Share to Hyperpigmentation
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Share to Melanins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Skin Diseases, Genetic

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Source

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Identifiers

PMID: 41127964
DOI: 10.1111/1346-8138.70024
PMCID: PMC12877986

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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