Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs)

<b>Background</b>: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among the most genetically and phenotypically heterogeneous conditions. NGS has allowed the characterization of a consisten...

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Autori principali:	Fabiana D’Esposito, Matteo Capobianco, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Gabriella Esposito, Edoardo Dammino, Antonio Carotenuto, Marco Zeppieri
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2025-05-01
Serie:	Biomedicines
Soggetti:	next generation sequencing NGS NGS incidental findings NGS secondary findings inherited retinal dystrophies genotype–phenotype correlation molecular diagnosis
Accesso online:	https://www.mdpi.com/2227-9059/13/5/1117
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