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Article

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

Platelets - 2 Oct 2020

Lecchi Anna, La Marca Silvia, Femia Eti A, Lenz Antonia, Boeckelmann Doris, Artoni Andrea, Peyvandi Flora, Zieger Barbara

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD). We report a case of 4-year-old boy from non-consanguineous parents with OCA and negative personal and familiar hemorrhagic history, referred to us for severe bleeding after mild...

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Identifiers

PMID: 31880485
DOI: 10.1080/09537104.2019.1704716

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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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