Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta,

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Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta, Maria Luisa Mostacciuolo, Mirella Collura, Salvatore Cazzato, Donatella Girosi, Michela Silvestri, Giovanni Arturo Rossi, Angelo Barbato, Giovanni Vazza The Journal of Molecular Diagnostics Volume 18, Issue 6, Pages 912-922 (November 2016) DOI: 10.1016/j.jmoldx.2016.07.002 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Molecular screening of 24 PCD genes in 44 unrelated index cases. A: Percentage of individuals with a molecular diagnosis versus individuals without a molecular diagnosis (left) and distribution of molecular diagnoses across 24 PCD genes (right). B: Type of identified mutations in the molecularly solved patients. PCD, primary ciliary dyskinesia. The Journal of Molecular Diagnostics 2016 18, 912-922DOI: (10.1016/j.jmoldx.2016.07.002) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions