Article

A rare variant of primary ciliary dyskinesia in combination with hereditary hemorrhagic telangiectasia type 1: a case from practice

2023-04-13

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare genetic disease belonging to the group of ciliopathies. The disease develops because a defect in the ultrastructure of the epithelial cilia in the respiratory tract and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.) disturbs their motor function. Currently, various clinical and genetic variants of the disease are distinguishe...

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Literature Corpus work: 4db0d7a6-43cc-51ff-87b4-b9928db01c8f
DOI: 10.18093/0869-0189-2023-33-2-251-258

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