Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
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Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder with variable clinical presentation. In cases where traditional diagnostic tools such as transmission electron microscopy (TEM) or nasal nitric oxide (nNO) measurement are inconclus... ...
