HPS4 bi-allellic ultra-rare variants in Hermansky-Pudlak syndrome pulmonary fibrosis patients in Greece, Cyprus and Türkiye - Amsterdam 2025

Rare interstitial lung diseases: genetics, atypical aetiologies and novel mechanisms

Chair(s): Pilar Rivera Ortega, Ilias Dimeas

Session type: Poster session

HPS4 bi-allellic ultra-rare variants in Hermansky-Pudlak syndrome pulmonary fibrosis patients in Greece, Cyprus and Türkiye

Effrosyni D. Manali

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SFTPA1 and SFTPA2 defects associated with interstitial lung disease are not always missense variations, a chILDEU study

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Abstract

HPS4 bi-allellic ultra-rare variants in Hermansky-Pudlak syndrome pulmonary fibrosis patients in Greece, Cyprus and Türkiye

Effrosyni D. Manali

Poster

Abstract

The potential role of radiomics in interstitial lung disease associated with systemic sclerosis (ILD-SSc)

Loredana Carobene

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Genetic Mutations in Familial Pulmonary Fibrosis: A Next Generation Sequencing (NGS) Study.

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Alice Villa

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The ERS Congress 2025, Amsterdam

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