Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

We demonstrate the utility of an exon coverage microarray platform in detecting intragenic deletions: one in exons 24–27 of the EP300 gene and another in exons 27 and 28 of the CREBBP gene in two patients with Rubinstein–Taybi syndrome (RSTS). RSTS is a heterogeneous disorder in which ∼45–55% of cas...

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Hlavní autoři: Tsai, Anne Chun-Hui, J Dossett, Cherilyn, Walton, Carol S, E Cramer, Andrea, Eng, Patti A, Nowakowska, Beata A, Pursley, Amber N, Stankiewicz, Pawel, Wiszniewska, Joanna, Cheung, Sau Wai
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039495/
https://ncbi.nlm.nih.gov/pubmed/20717166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.121
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