Article

Mutations in CCNO result in Primary ciliary dyskinesia complicated with diffuse bronchiolitis: a case report and literature review

2024-01-31

Abstract excerpt

<h4>Background: </h4> Primary ciliary dyskinesia (PCD) is a rare genomic disorder. The phenotype heterogeneity depends on the genotype. Critical genes mutant like CCNO had severe respiratory disease, while limited data are available until now. Case presentation: We presented a patient with neonatal respiratory distress at birth, and had cough with wheeze for 8 years as flows. According to clinical and imaging find...

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Literature Corpus work: 8441dd1d-4db8-5c2b-8efd-cdda6cdf79ab
DOI: 10.22541/au.170669490.00990984/v1

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