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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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Bibliografiska uppgifter
I publikationen:Cells
Huvudupphovsmän: Pereira, Rute, Barbosa, Telma, Gales, Luís, Oliveira, Elsa, Santos, Rosário, Oliveira, Jorge, Sousa, Mário
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2019
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6721662/
https://ncbi.nlm.nih.gov/pubmed/31443223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells8080900
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