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Article

Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1 in Japanese patients with recurrent sinopulmonary infection

8 Nov 2019

Abstract excerpt

BACKGROUND: Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms. METHODS: In 105 Japanese patients with recurrent sinopulmonary infection, initially diagnosed with DPB, and 37...

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PMID: 31701675
DOI: 10.1002/mgg3.1033

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