Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic IRD, we identified 17 distinct genomic variants i...

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Detalles Bibliográficos
Autores principales: Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481312/
https://www.ncbi.nlm.nih.gov/pubmed/34588515
http://dx.doi.org/10.1038/s41598-021-98677-3

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