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Article

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

The British journal of ophthalmology - 1 Nov 2016

Hull Sarah, Arno Gavin, Holder Graham E, Plagnol Vincent, Gomez Keith, Liesner Ri, Webster Andrew R, Moore Anthony T

Abstract excerpt

BACKGROUND: Hermansky-Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism. Consideration of HPS as a differential diagnosis is important due to its potential systemic complications. HPS6 is a rarely reported subtype. METHODS: Three patients from two families underwent clinical examination, imaging and targeted systemic investigations. Electrophysiology with...

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Identifiers

PMID: 26823395
DOI: 10.1136/bjophthalmol-2015-308067

Genes

HPS6

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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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