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Article

Primary ciliary dyskinesia.

Presse medicale (Paris, France : 1983) - 1 Sept 2023

Raidt Johanna, Loges Niki Tomas, Olbrich Heike, Wallmeier Julia, Pennekamp Petra, Omran Heymut

Abstract excerpt

BACKGROUND AND OBJECTIVES: Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD. Nevertheless, it is underdiagnosed due...

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Cilia
Ciliary Motility Disorders
Cystic Fibrosis Research Advances
Genetic and Kidney Cyst Diseases
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kartagener Syndrome

Neurogenetic and Muscular Disorders Research

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PMID: 37516247
DOI: 10.1016/j.lpm.2023.104171

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