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An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. METHODS: Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiolo...

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Detalles Bibliográficos
Autores principales:	Eidinger, Osnat, Leibu, Rina, Newman, Hadas, Rizel, Leah, Perlman, Ido, Ben-Yosef, Tamar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676936/ https://www.ncbi.nlm.nih.gov/pubmed/26702251

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