Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Human genetics - 1 Oct 2020
Shamseldin Hanan E, Al Mogarri Ibrahim, Alqwaiee Mansour M, Alharbi Adel S, Baqais Khaled, AlSaadi Muslim, AlAnzi Talal, Alhashem Amal, Saghier Afaf, Ameen Waleed, Ibrahim Niema, Yang Jason, Abdulwahab Firdous, Hashem Mais, Chivukula Raghu R, Alkuraya Fowzan S
Abstract excerpt
Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower clinical spectrum consistent with the limited tissue distribution of motile cilia. Nonetheless, PCD diagnosis can be challenging due to the overlapping features with other disorders and the requirement for sophisticated tests that are only available in specialized centers. We performed exome sequencing on all patients with a...
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