Article
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.
BMC pulmonary medicine - 15 May 2020
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
Abstract excerpt
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 with the advancement of genetic and molecular testing. CASE PRESENTATION: Here in, we report two siblings with a...
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