High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Descrição
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-019-1022-8/MediaObjects/13023_2019_1022_Fig3_HTML.png)
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://0.academia-photos.com/attachment_thumbnails/46869455/mini_magick20190208-18020-bpynuj.png?1549658917)
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://jmg.bmj.com/content/jmedgenet/39/7/496/F2.large.jpg)
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g001.png?1626846418)
Genes, Free Full-Text
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://i1.rgstatic.net/publication/311625226_First_case_report_of_inherited_Rubinstein-Taybi_syndrome_associated_with_a_novel_EP300_variant/links/5851832b08ae0c0f321af863/largepreview.png)
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs12031-020-01681-x/MediaObjects/12031_2020_1681_Fig2_HTML.png)
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://onlinelibrary.wiley.com/cms/asset/eea9fc0f-53bd-4e63-84ca-14a47d1703fa/ajmga38626-fig-0004-m.jpg)
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160710080711-69140-mediumThumb-S1462399410001390_fig3g.jpg?pub-status=live)
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g004.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
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://onlinelibrary.wiley.com/cms/asset/1e14f96d-b018-49bd-9289-035655527dbd/mgg31009-fig-0002-m.jpg)
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://onlinelibrary.wiley.com/cms/asset/94cb7c5d-1605-4d79-b780-ef3cbd6113ef/mgg31009-fig-0001-m.jpg)
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis](https://0.academia-photos.com/attachment_thumbnails/68777986/mini_magick20210817-10241-mciacn.png?1629184562)
PDF) Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells
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