Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/259813
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | WDR34, a candidate gene for non-syndromic rod-cone dystrophy |
Autor: | Solaguren-Beascoa, María; Bujakowska, Kinga; Méjécase, Cécile; Emmenegger, Lisa; Orhan, Elise; Neuillé, Marion; Mohand-Saïd, Saddek; Condroyer, Christel; Lancelot, Marie-Elise; Michiels, Christelle; Demontant, Vanessa; Antonio, Aline; Letexier, Mélanie; Saraiva, Jean-Paul; Lonjou, Christine; Carpentier, Wassila; Léveillard, Thierry; Pierce, Eric A.; Dollfus, Hélène; Sahel, José-Alain; Bhattacharya, Shom Shanker CSIC ORCID; Audo, Isabelle; Zeitz, Christina | Palabras clave: | KIAA2026 Non-syndromic rod-cone dystrophy Retinitis pigmentosa WDR34 Whole-exomesequencing |
Fecha de publicación: | feb-2021 | Editor: | John Wiley & Sons | Citación: | Clinical Genetics 99(2): 298-302 (2021) | Resumen: | Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD. | Versión del editor: | http://dx.doi.org/10.1111/cge.13872 | URI: | http://hdl.handle.net/10261/259813 | DOI: | 10.1111/cge.13872 | Identificadores: | doi: 10.1111/cge.13872 e-issn: 1399-0004 issn: 0009-9163 |
Aparece en las colecciones: | (CABIMER) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
Page view(s)
40
checked on 16-may-2024
Download(s)
9
checked on 16-may-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.