Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 28 agosto 2024
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://jmg.bmj.com/content/jmedgenet/39/7/496/F1.large.jpg)
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://casereports.bmj.com/content/bmjcr/16/1/e251543/F1.large.jpg)
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/562b7209-9329-442d-8b0f-e2027f7f9dd7/ced13871-fig-0001-m.jpg)
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig2_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://www.researchgate.net/publication/14084837/figure/tbl2/AS:601603077861381@1520444759303/Prediction-of-an-RTI-deletion-using-selected-Rubinstein-Taybi-syndrome-traits.png)
Prediction of an RTI deletion using selected Rubinstein-Taybi syndrome
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://jmg.bmj.com/content/jmedgenet/39/6/415/F2.large.jpg)
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627192936-46366-mediumThumb-S1462399407000415_fig1g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g001a.png)
IJMS, Free Full-Text
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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
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://d3i71xaburhd42.cloudfront.net/26976dbcb3a1a8df1afb05d250396a5769b39477/2-Figure3-1.png)
Figure 3 from Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://upload.wikimedia.org/wikipedia/commons/c/ce/Rubinstein-Taybi_Syndrome1.jpg)
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig1_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://ars.els-cdn.com/content/image/1-s2.0-S0002929707628699-gr3.jpg)
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41467-022-34476-2/MediaObjects/41467_2022_34476_Fig1_HTML.png)
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
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