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Article

Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment.

Experimental oncology - 1 Mar 2018

Lozynska L Y, Plawski A, Lozynska M R, Vytvytskyi I, Lozynskyi R Y, Prokopchuk N, Tretiak B

Abstract excerpt

AIM: To study the relationship between the genotype and the phenotype in the patients with Hermansky - Pudlak syndrome (HPS) associated with granulomatous colitis; to monitor clinical course of the disease for adequate treatment, cancer surveillance and genetic counseling. MATERIALS AND METHODS: The diagnosis of HPS is established by physical examination, chest X-ray, computed tomography, endoscopic examination...

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Identifiers

PMID: 29600982

Genes

NOD2
VDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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