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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...
Autores principales: | Pereira, Rute, Barbosa, Telma, Gales, Luís, Oliveira, Elsa, Santos, Rosário, Oliveira, Jorge, Sousa, Mário |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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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 |
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