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Article

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

BioMed research international - 1 Jan 2016

Bernardis Isabella, Chiesi Laura, Tenedini Elena, Artuso Lucia, Percesepe Antonio, Artusi Valentina, Simone Maria Luisa, Manfredini Rossella, Camparini Monica, Rinaldi Chiara, Ciardella Antonio, Graziano Claudio, Balducci Nicole, Tranchina Antonia, Cavallini Gian Maria, Pietrangelo Antonello, Marigo Valeria, Tagliafico Enrico

Abstract excerpt

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), Leber Congenital Amaurosis (LCA), Stargardt Disease (STGD), Best Macular Dystrophy (BMD), Usher Syndrome (USH),...

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Identifiers

PMID: 28127548
DOI: 10.1155/2016/6341870
PMCID: PMC5227126

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