Article
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Pediatric pulmonology - 1 Dec 2024
Black Holly A, de Proce Sophie Marion, Campos Jose L, Meynert Alison, Halachev Mihail, Marsh Joseph A, Hirst Robert A, O'Callaghan Chris, Shoemark Amelia, Toddie-Moore Daniel, Santoyo-Lopez Javier, Murray Jennie, Macleod Kenneth, Urquhart Don S, Unger Stefan, Aitman Timothy J, Mill Pleasantine
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and laterality defects. Given overlapping clinical features and genetic heterogeneity, diagnosis can be difficult and often occurs late. Of...
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