Clinical impacts of genomic copy number gains at Xq28

Duplications of the Xq28 region are the most frequent chromosomal aberrations observed in patients with intellectual disability (ID), especially in males. These duplications occur by variable mechanisms, including interstitial duplications mediated by segmental duplications in this region and termin...

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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Yamamoto, Toshiyuki, Shimojima, Keiko, Shimada, Shino, Yokochi, Kenji, Yoshitomi, Shinsaku, Yanagihara, Keiko, Imai, Katsumi, Okamoto, Nobuhiko
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2014
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Review Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785515/
https://ncbi.nlm.nih.gov/pubmed/27081496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.1
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