Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
Holly A. Black,
Sophie Marion de Proce,
Jose L. Campos
et al.
Abstract:BackgroundPrimary 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 those tested an estimated 30% of genetically screened PCD patients still lack a molecular diagnosis.… Show more
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