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

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

Abstract 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 v...

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Autores principales: Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/45ebab2103354052b1c5d15d59bd2b73
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