Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
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DOI: 10.1136/jmedgenet-2019-106424
Abstract: Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary… read more here.
Keywords: quantitative ciliary; beating; extensive genotyping; primary ciliary ... See more keywords