Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

BACKGROUND: The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in...

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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Mehvari, Sepideh, Larti, Farzaneh, Hu, Hao, Fattahi, Zohreh, Beheshtian, Maryam, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Ropers, Hans‐Hilger, Kalscheuer, Vera M., Auld, Daniel, Kahrizi, Kimia, Riazalhosseini, Yasser, Najmabadi, Hossein
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Clinical Reports
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549592/
https://ncbi.nlm.nih.gov/pubmed/32715656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1418
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