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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

BACKGROUND: Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing wit...

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書目詳細資料
發表在:BMC Pulm Med
Main Authors: Al Mutairi, Fuad, Alkhalaf, Randa, Alkhorayyef, Abdullah, Alroqi, Fayhan, Yusra, Alyafee, Umair, Muhammad, Nouf, Fetaini, Khan, Amjad, Meshael, Alharbi, Hamad, Aleidi, Monira, Alaujan, Asiri, Abdulaziz, Alhamoudi, Kheloud M., Alfadhel, Majid
格式: Artigo
語言:Inglês
出版: BioMed Central 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229615/
https://ncbi.nlm.nih.gov/pubmed/32414360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12890-020-1175-1
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