Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
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DOI: 10.1186/s12890-020-1175-1
Abstract: 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… read more here.
Keywords: primary ciliary; ciliary dyskinesia; truncating nek10; report ... See more keywords