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Article

Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.

Respiratory research - 20 Mar 2025

Kim Jeong-Min, Hwang Soojin, Cho Hye-Won, Kim Youngjun, Shin Dong Mun, Lee Eun, Kim Myungshin, Lee Cheonghwa, Kim Jong-Won, Park Hyun-Young, Lee Beom Hee, Park Mi-Hyun

Abstract excerpt

BACKGROUND: Bronchiectasis is a chronic respiratory condition characterized by irreversible dilation and damage of the bronchial walls, leading to impaired mucociliary clearance and recurrent infections. Its etiology is diverse; however, genetic factors are critical in its congenital and severe forms. Therefore, we aimed to identify two novel variants of the WFDC2 gene, known as antiprotease, from patients with...

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Topics

Humans
Bronchiectasis
Male
Female
Genetic Variation
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Whole Genome Sequencing

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 40114242
DOI: 10.1186/s12931-025-03183-z
PMCID: PMC11927193

Genes

WFDC2

Provenance

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