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 06 agosto 2024
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Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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PDF) 'Going into the unknown': Experiences of male patients in secure settings during environmental transition
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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/272511841599493-1441983294153_Q64/Francisco-Cammarata-Scalisi.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://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g002a.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
![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
![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://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
![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://europepmc.org/articles/PMC6863608/bin/nihms-1056974-f0006.jpg)
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
![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/278861834145795-1443497250143_Q64/Michele-Callea.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/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/lw685/springer-static/image/art%3A10.1186%2Fs12920-022-01335-4/MediaObjects/12920_2022_1335_Fig1_HTML.jpg)
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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