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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing wit...
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| Published in: | BMC Pulm Med |
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| Main Authors: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2020
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7229615/ https://ncbi.nlm.nih.gov/pubmed/32414360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-020-1175-1 |
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