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Article

Phenotypic characterization of retinitis pigmentosa associated with deafness

Biomedica : revista del Instituto Nacional de Salud - 1 May 2022

Paredes Ángela Camila, López Greizy, Gelvez Nancy, Tamayo Marta Lucía

Abstract excerpt

Introduction: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. However, there are cases of families that despite having retinitis pigmentosa associated with deafness, cannot be classified as Usher or other...

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PMID: 35866736
DOI: 10.7705/biomedica.6129
PMCID: PMC9385447

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