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Clinical and Genetic Analysis of Children with Kartagener Syndrome

15 Aug 2019

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron...

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PMID: 31443223
DOI: 10.3390/cells8080900

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