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Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnos...
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| Publicat a: | BMJ Case Rep |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6144183/ https://ncbi.nlm.nih.gov/pubmed/30209139 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224964 |
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