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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
Subjects:
Case Report
Online Access: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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