Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) impl...

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Publicado no:Front Cell Dev Biol
Main Authors: Ascari, Giulia, Rendtorff, Nanna D., De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Cell and Developmental Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8097100/
https://ncbi.nlm.nih.gov/pubmed/33968938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.664317
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