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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...

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Detalles Bibliográficos
Autores principales: Dai, Hai-Long, Wang, Duolao, Guang, Xue-Feng, Zhang, Wei-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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