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Article

Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

AJR. American journal of roentgenology - 1 Oct 2002

Avila Nilo A, Brantly Mark, Premkumar Ahalya, Huizing Marjan, Dwyer Andrew, Gahl William A

Abstract excerpt

OBJECTIVE: The objective of our study was to describe the chest radiographic and high-resolution CT findings in patients with Hermansky-Pudlak syndrome and to correlate the radiologic findings with age, causative gene, and pulmonary function. SUBJECTS AND METHODS: Sixty-seven patients with Hermansky-Pudlak syndrome underwent high-resolution CT of the chest. A scoring system based on the extent of pulmonary...

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Source

Identifiers

PMID: 12239031
DOI: 10.2214/ajr.179.4.1790887

Genes

HPS1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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