Article

A clinical case of primary ciliary dyskinesia in a child under one year old with a pathogenic genetic variant of the DNAH5 gene described for the first time

2023-10-09

Abstract excerpt

Relevance: primary ciliary dyskinesia (PCD) is a rare hereditary autosomal recessive disease from the group of ciliopathies, which is based on a defect in the ultrastructure of the cilia of the epithelium of the respiratory tract and similar structures, leading to a violation of their motor function. It is characterized by the defeat of all parts of the respiratory tract with the formation of a chronic inflammator...

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Literature Corpus work: 5feb2a13-fe94-5125-a1b5-f87614bc462d
DOI: 10.31146/2949-4664-apps-1-1-78-87

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