Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

We previously reported on nonrecurrent overlapping duplications at Xp11.22 in individuals with nonsyndromic intellectual disability (ID) harboring HSD17B10, HUWE1, and the microRNAs miR-98 and let-7f-2 in the smallest region of overlap. Here, we describe six additional individuals with nonsyndromic...

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Auteurs principaux: Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415555/
https://ncbi.nlm.nih.gov/pubmed/22840365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.010
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