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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Yamamoto, Toshiyuki, Shimojima, Keiko, Shimada, Shino, Yokochi, Kenji, Yoshitomi, Shinsaku, Yanagihara, Keiko, Imai, Katsumi, Okamoto, Nobuhiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Review Article
Acesso em linha: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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