Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

PURPOSE: RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease. METHODS: Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with p...

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Publicat a:Genet Med
Autors principals: Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752271/
https://ncbi.nlm.nih.gov/pubmed/30377383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0345-5
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