Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to extend distally (involving LCR22E–H) to the commonly deleted/duplicated region. To date, 21 index cases with ‘distal’ 22q11.2 duplications have...

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Main Authors: Wincent, J., Bruno, D.L., van Bon, B.W.M., Bremer, A., Stewart, H., Bongers, E.M.H.F., Ockeloen, C.W., Willemsen, M.H., Keays, D.D.A., Baird, G., Newbury, D.F., Kleefstra, T., Marcelis, C., Kini, U., Stark, Z., Savarirayan, R., Sheffield, L.J., Zuffardi, O., Slater, H.R., de Vries, B.B., Knight, S.J.L., Anderlid, B.-M., Schoumans, J.
格式: Artigo
語言:Inglês
出版: S. Karger AG 2011
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214948/
https://ncbi.nlm.nih.gov/pubmed/22140377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000327982
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