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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Principais autores:	Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczyński
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	MDPI AG 2023-02-01
סדרה:	Diagnostics
נושאים:	retinitis pigmentosa (RP) targeted NGS whole-exome sequencing molecular re-diagnosis
גישה מקוונת:	https://www.mdpi.com/2075-4418/13/4/730
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!