Article: Identification of a novel
2024 Volume 12, Page(s) 1339664
Abstract: Background: The mutations in the : Methods: Two young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, ... ...
Abstract | Background: The mutations in the Methods: Two young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing. Results: We identified a novel frameshift Conclusion: The identified novel pathogenic mutation in the |
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Language | English |
Publishing date | 2024-01-25 |
Publishing country | Switzerland |
Document type | Case Reports |
ZDB-ID | 2711999-3 |
ISSN | 2296-2360 |
ISSN | 2296-2360 |
DOI | 10.3389/fped.2024.1339664 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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