Article
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
The Journal of molecular diagnostics : JMD - 1 Nov 2016
Boaretto Francesca, Snijders Deborah, Salvoro Cecilia, Spalletta Ambra, Mostacciuolo Maria Luisa, Collura Mirella, Cazzato Salvatore, Girosi Donatella, Silvestri Michela, Rossi Giovanni Arturo, Barbato Angelo, Vazza Giovanni
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary clearance, with consequent chronic disease of upper and lower airways. Diagnosis of PCD is challenging, and genetic testing is hampered by the high heterogeneity of the disease, because autosomal recessive causative mutations were found in 34 different genes. In this study, we clinically and molecularly characterized a cohort of...
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