Exon deletions of the EP300 and CREBBP genes in two children with
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Last updated 28 junho 2024
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig1_HTML.jpg)
![Exon deletions of the EP300 and CREBBP genes in two children with](https://iiif.elifesciences.org/lax:74970%2Felife-74970-fig2-v2.tif/full/,1500/0/default.jpg)
The missing link between genetic association and regulatory function
![Exon deletions of the EP300 and CREBBP genes in two children with](https://ars.els-cdn.com/content/image/1-s2.0-S1074761319303322-gr2.jpg)
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma - ScienceDirect
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g001.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41392-020-00437-8/MediaObjects/41392_2020_437_Fig2_HTML.png)
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00439-015-1542-9/MediaObjects/439_2015_1542_Fig2_HTML.gif)
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g005.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.researchgate.net/publication/45508569/figure/fig2/AS:277400018538497@1443148726344/A-Location-of-the-exon-CREBBP-mutations-found-in-this-study-Only-exons-are-drawn-to.png)
A) Location of the exon CREBBP mutations found in this study. Only
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2016.47/MediaObjects/41431_2016_Article_BFejhg201647_Fig1_HTML.jpg)
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
![Exon deletions of the EP300 and CREBBP genes in two children with](https://onlinelibrary.wiley.com/cms/asset/40b70e9c-3375-47a3-9040-3a5b60d365b1/ajmga61883-fig-0002-m.jpg)
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.researchgate.net/publication/341887737/figure/fig5/AS:963439941922820@1606713390501/Fusion-proteins-detected-in-TCGA-cohort-with-genes-relevant-to-this-study-BCOR-CREBBP.png)
Fusion proteins detected in TCGA cohort with genes relevant to this
![Exon deletions of the EP300 and CREBBP genes in two children with](https://cyberleninka.org/viewer_images/894815/f/1.png)
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.ncbi.nlm.nih.gov/books/NBK374260/bin/CDR0000811447.jpg)
Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g002a.png)
IJMS, Free Full-Text
![Exon deletions of the EP300 and CREBBP genes in two children with](https://ars.els-cdn.com/content/image/1-s2.0-S1074761319303322-gr5.jpg)
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma - ScienceDirect
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