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CFAP300 mutation causing primary ciliary dyskinesia in Finland

30 Sept 2022

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell that are responsible for removal of mucus from the airways and organizing internal organ positioning during embryonic development. PCD...

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Identifiers

PMID: 36246608
DOI: 10.3389/fgene.2022.985227

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