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Article

Hypopigmentation in Hermansky-Pudlak syndrome.

The Journal of dermatology - 1 May 2013

Wei Ai-Hua, He Xin, Li Wei

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently, nine genes have been identified as causative for HPS in humans. Hypopigmentation is the prominent feature of HPS, attributable to the disrupted biogenesis of melanosome, a member of the lysosome-related organelle (LRO) family. Current understanding...

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Identifiers

PMID: 23668540
DOI: 10.1111/1346-8138.12025

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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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