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Article

Hermansky-Pudlak Syndrome.

Seminars in respiratory and critical care medicine - 1 Apr 2020

De Jesus Rojas Wilfredo, Young Lisa R

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though...

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Identifiers

PMID: 32279294
DOI: 10.1055/s-0040-1708088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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