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

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Presentation on theme: "Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel  Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta,"— Presentation transcript:

1 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 (November 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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