Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss of photoreceptor and pigment epithelial function. Nineteen unrelated Polish probands clinically diagnosed with nonsyndromic RP were recruited to this study. We used whole-exome sequencing...

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Bibliographic Details
Main Authors: Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczyński
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Diagnostics
Subjects:
retinitis pigmentosa (RP)
targeted NGS
whole-exome sequencing
molecular re-diagnosis
Online Access:https://www.mdpi.com/2075-4418/13/4/730

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https://www.mdpi.com/2075-4418/13/4/730

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