Article

Considerable variability in the clinical and ciliary features of primary ciliary dyskinesia in patients with DNAH5 mutations

2022-01-31

Abstract excerpt

<h4>Background: </h4> Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous disorder, but the relationship between genotype and phenotype is poorly established. We aimed to characterize the detailed clinical characteristics, ciliary phenotype and mutational spectrum of PCD patients with DNAH5 mutations. <h4>Methods: </h4>: Whole exome sequencing followed by targeted copy number variation (...

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Literature Corpus work: d853ed04-f8a6-50df-b78e-90281f9375aa
DOI: 10.21203/rs.3.rs-1283519/v1

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