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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...
Autores principales: | Yamamoto, Toshiyuki, Shimojima, Keiko, Shimada, Shino, Yokochi, Kenji, Yoshitomi, Shinsaku, Yanagihara, Keiko, Imai, Katsumi, Okamoto, Nobuhiko |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785515/ https://www.ncbi.nlm.nih.gov/pubmed/27081496 http://dx.doi.org/10.1038/hgv.2014.1 |
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