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Pulmonary Hypertension in a Patient With Kartagener’s Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report
Kartagener’s syndrome is a subgroup of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition characterised by sinusitis, bronchiectasis, and situs in versus. Genetic testing has importance for their diagnosis. Here, we report a chinese patient with Kartagener’s syndrome. Transthora...
Autores principales: | Dai, Hai-Long, Wang, Duolao, Guang, Xue-Feng, Zhang, Wei-Hua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005740/ https://www.ncbi.nlm.nih.gov/pubmed/35433722 http://dx.doi.org/10.3389/fmed.2022.860684 |
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