Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

INTRODUCTION: Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase...

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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Carneiro, Thaise NR, Krepischi, Ana CV, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana AM, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2018
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6110279/
https://ncbi.nlm.nih.gov/pubmed/30174453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S165799
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