Clinical and Genetic Analysis of Children with Kartagener Syndrome

Clinical and Genetic Analysis of Children with Kartagener Syndrome

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 a...

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Bibliographic Details
Main Authors: Rute Pereira, Telma Barbosa, Luís Gales, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:Cells
Subjects:
primary ciliary dyskinesia
<i>situs inversus</i>
whole-exome sequencing
<i>CCDC40</i>
<i>DNAH5</i>
<i>DNAH7</i>
Online Access:https://www.mdpi.com/2073-4409/8/8/900

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https://www.mdpi.com/2073-4409/8/8/900

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