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Article

Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene.

Internal medicine (Tokyo, Japan) - 1 Jun 2005

Kobashi Yoshihiro, Yoshida Kouichiro, Miyashita Naoyuki, Niki Yoshihito, Matsushima Toshiharu

Abstract excerpt

A 57-year-old man with occulocutaneous albinism was admitted to our hospital because of exertional dyspnea and an abnormal shadow on chest roentgenogram. Chest CT revealed diffuse interstitial shadows with reticulonodular opacities in the bilateral whole lung fields and his pulmonary function test was consistent with a restrictive finding. Histologically, intraluminal diffuse fibrosis and interstitial fibrosis...

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Source

Identifiers

PMID: 16020891
DOI: 10.2169/internalmedicine.44.616

Genes

HPS1

Provenance

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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