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Article

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Ophthalmic genetics - 1 Jan 2016

Jardón Javier, Izquierdo Natalio J, Renta Jessica Y, García-Rodríguez Omar, Cadilla Carmen L

Abstract excerpt

PURPOSE: To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS: This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon...

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Source

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Identifiers

PMID: 24766090
DOI: 10.3109/13816810.2014.907920
PMCID: PMC4232478

Genes

HPS1
HPS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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