Publications by authors named "Kumiko Kido"
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic condition affecting ciliary function and structure, diagnosed through genotyping, with an estimated incidence of 1 in 15,000-20,000 individuals.
- A 39-year-old Japanese woman suffering from long-term respiratory issues was diagnosed with PCD after whole-exome analysis revealed novel genetic variants and confirmed lack of a key protein in her cilia.
- The case highlights that patients with certain PCD variants may experience moderate ciliary dysfunction, a reduced number of moving cilia, and potentially severe respiratory conditions.
