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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Detalles Bibliográficos
Autores principales: Wawrocka, Anna, Socha, Magdalena, Walczak-Sztulpa, Joanna, Koczyk, Grzegorz, Skorczyk-Werner, Anna, Krawczyński, Maciej R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9954991/
https://www.ncbi.nlm.nih.gov/pubmed/36832217
http://dx.doi.org/10.3390/diagnostics13040730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9954991/
https://www.ncbi.nlm.nih.gov/pubmed/36832217
http://dx.doi.org/10.3390/diagnostics13040730

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