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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Gepubliceerd in:BMC Pulm Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2020
Onderwerpen:
Case Report
Online toegang: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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