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IIS - Fundacion Jimenez Diaz Data Access Committee

ABSTRACT: Data Access Committee EGAC00001002010

PROVIDER: EGAC00001002010 | EGA |

REPOSITORIES: EGA

ACCESS DATA

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Publications

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Perea-Romero Irene I Gordo Gema G Iancu Ionut F IF Del Pozo-Valero Marta M Almoguera Berta B Blanco-Kelly Fiona F Carreño Ester E Jimenez-Rolando Belen B Lopez-Rodriguez Rosario R Lorda-Sanchez Isabel I Martin-Merida Inmaculada I Pérez de Ayala Lucia L Riveiro-Alvarez Rosa R Rodriguez-Pinilla Elvira E Tahsin-Swafiri Saoud S Trujillo-Tiebas Maria J MJ Garcia-Sandoval Blanca B Minguez Pablo P Avila-Fernandez Almudena A Corton Marta M Ayuso Carmen C

Scientific reports 20210115 1

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish auton ...[more]

PMID: 33452396

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