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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Appl Clin Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Dove Medical Press 2018
Konular:
Original Research
Online Erişim: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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