Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review

BACKGROUND: Kartagener syndrome is a subtype of primary ciliary dyskinesia that may exhibit various symptoms including neonatal respiratory distress and frequent infections of the lung, sinus and middle ear because of the impaired function of motile cilia. In addition to typical symptoms of primary...

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Detalles Bibliográficos
Autores principales: Wang, Lina, Zhao, Xin, Liang, Hang, Zhang, Li, Li, Chunyan, Li, Deli, Meng, Xiangfeng, Meng, Fanzheng, Gao, Mao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8364053/
https://www.ncbi.nlm.nih.gov/pubmed/34391405
http://dx.doi.org/10.1186/s12890-021-01586-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8364053/
https://www.ncbi.nlm.nih.gov/pubmed/34391405
http://dx.doi.org/10.1186/s12890-021-01586-4

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