Article
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clinical genetics - 1 Mar 2020
Fassad Mahmoud R, Shoman Walaa I, Morsy Heba, Patel Mitali P, Radwan Nesrine, Jenkins Lucy, Cullup Thomas, Fouda Eman, Mitchison Hannah M, Fasseeh Nader
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a rare genetic disorder of motile cilia dysfunction generally inherited as an autosomal recessive disease. Genetic testing is increasingly considered an early step in the PCD diagnostic workflow. We used targeted panel next-generation sequencing (NGS) for genetic screening of 33 Egyptian families with clinically highly suspected PCD. All variants prioritized were Sanger...
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