Article

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

2024-01-16

Abstract excerpt

Abstract Purpose of Review Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice. Recent Findings This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with wo...

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Literature Corpus work: 4c1c7501-546e-5006-a20f-5e25778e790f
DOI: 10.1007/s13665-023-00332-x

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