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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Detalles Bibliográficos
Publicado en:Hum Genome Var
Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Shimada, Shino, Yokochi, Kenji, Yoshitomi, Shinsaku, Yanagihara, Keiko, Imai, Katsumi, Okamoto, Nobuhiko
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
Materias:
Review Article
Acceso en línea: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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