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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Vydáno v:Hum Genome Var
Hlavní autoři: Yamamoto, Toshiyuki, Shimojima, Keiko, Shimada, Shino, Yokochi, Kenji, Yoshitomi, Shinsaku, Yanagihara, Keiko, Imai, Katsumi, Okamoto, Nobuhiko
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Review Article
On-line přístup: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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