Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP...

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Main Authors: Isabella Bernardis, Laura Chiesi, Elena Tenedini, Lucia Artuso, Antonio Percesepe, Valentina Artusi, Maria Luisa Simone, Rossella Manfredini, Monica Camparini, Chiara Rinaldi, Antonio Ciardella, Claudio Graziano, Nicole Balducci, Antonia Tranchina, Gian Maria Cavallini, Antonello Pietrangelo, Valeria Marigo, Enrico Tagliafico
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2016/6341870

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http://dx.doi.org/10.1155/2016/6341870

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