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Primary ciliary dyskinesia: From diagnosis to molecular mechanisms

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder affecting motile cilia. This can lead to neonatal respiratory distress, early onset upper and lower airway infections, laterality abnormalities and sub- or infertility. Although disease progression shows large individual variabi...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Paff, Tamara, Daniels, Johannes M.A., Pals, Gerard, Haarman, Eric G.
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020995/
https://ncbi.nlm.nih.gov/pubmed/27625868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14088
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