The phenotype of recurrent 10q22q23 deletions and duplications

The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions a...

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Detaylı Bibliyografya
Asıl Yazarlar: van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckmann, Jacques S, Irons, Mira, Potocki, Lorraine, Lee, Brendan, Cheung, Sau Wai, Patel, Ankita, Bellini, Melissa, Selicorni, Angelo, Ciccone, Roberto, Silengo, Margherita, Vetro, Annalisa, Knoers, Nine V, de Leeuw, Nicole, Pfundt, Rolph, Wolf, Barry, Jira, Petr, Aradhya, Swaroop, Stankiewicz, Pawel, Brunner, Han G, Zuffardi, Orsetta, Selleck, Scott B, Lupski, James R, de Vries, Bert B A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2011
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060324/
https://ncbi.nlm.nih.gov/pubmed/21248748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.211
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