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CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.

Retina (Philadelphia, Pa.) - 1 Sept 2021

Rodríguez-Muñoz Ana, García-Bohórquez Belén, Udaondo Patricia, Hervás-Ontiveros Ana, Salom David, Aller Elena, Jaijo Teresa, García-García Gema, Millán José

Abstract excerpt

PURPOSE: To highlight the challenge of correct reproductive and therapeutic counseling in complex pedigrees with different inherited retinal dystrophies (IRD). METHODS: Two hundred eight patients diagnosed with nonsyndromic IRD underwent full ophthalmologic examination and molecular analysis using targeted next-generation sequencing. RESULTS: Five families (4%) carried mutations in more than one gene that...

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PMID: 33411470
DOI: 10.1097/IAE.0000000000003103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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