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
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Last updated 10 fevereiro 2025
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Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![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](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627192855-73615-mediumThumb-S1462399407000415_fig2g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![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](https://i1.rgstatic.net/ii/profile.image/272346825097254-1441943951880_Q64/Patrizia-Colapietro.jpg)
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
![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](https://i1.rgstatic.net/ii/profile.image/981350244945920-1610983539629_Q64/Jette-Mollerhoj.jpg)
PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
![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](https://www.frontiersin.org/files/Articles/1059658/fped-11-1059658-HTML/image_m/fped-11-1059658-g001.jpg)
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
![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](https://i1.rgstatic.net/ii/profile.image/278665632993290-1443450472319_Q64/Guillermo-Gerona-Navarro.jpg)
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
![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](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 Rubinstein –Taybi syndrome detected by aCGH
![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](https://i1.rgstatic.net/ii/profile.image/11431281172385864-1688543853412_Q64/Oliver-Bartsch-2.jpg)
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
![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](https://i1.rgstatic.net/publication/267048675_'Going_into_the_unknown'_Experiences_of_male_patients_in_secure_settings_during_environmental_transition/links/5b6ff06f45851546c9fbf526/largepreview.png)
PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition
![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](https://ars.els-cdn.com/content/image/1-s2.0-S1534580718301072-gr4.jpg)
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
![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](https://i1.rgstatic.net/ii/profile.image/728084823175168-1550600357062_Q64/Alison-Ward-3.jpg)
PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition
![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](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fejhg.2016.14/MediaObjects/41431_2016_Article_BFejhg201614_Fig2_HTML.jpg)
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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