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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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Detalles Bibliográficos
Autores principales: Pereira, Rute, Barbosa, Telma, Gales, Luís, Oliveira, Elsa, Santos, Rosário, Oliveira, Jorge, Sousa, Mário
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721662/
https://www.ncbi.nlm.nih.gov/pubmed/31443223
http://dx.doi.org/10.3390/cells8080900