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Article

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative ophthalmology & visual science - 1 Feb 2021

Colombo Leonardo, Maltese Paolo E, Castori Marco, El Shamieh Said, Zeitz Christina, Audo Isabelle, Zulian Alessandra, Marinelli Carla, Benedetti Sabrina, Costantini Alisia, Bressan Simone, Percio Marcella, Ferri Paolo, Abeshi Andi, Bertelli Matteo, Rossetti Luca

Abstract excerpt

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. Probands were analyzed by a customized multigene panel approach. Sanger sequencing was used...

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Identifiers

PMID: 33576794
DOI: 10.1167/iovs.62.2.13
PMCID: PMC7884295

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Source receipt: pubmed, retrieved 7 Sept 2026.

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