Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 18 fevereiro 2025
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2016.14/MediaObjects/41431_2016_Article_BFejhg201614_Fig1_HTML.jpg)
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](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
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://d3i71xaburhd42.cloudfront.net/58835b3968b5062cd04e1b0e4fbcf37a65461dc4/2-Figure1-1.png)
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g004.png?1626846418)
Genes, Free Full-Text
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://d3i71xaburhd42.cloudfront.net/7433076fccc7986718cb36b838ca499f9232866e/2-Figure1-1.png)
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://onlinelibrary.wiley.com/cms/asset/2e25c837-deeb-40df-8f31-7a4bd9b0fb5d/ajmga61888-fig-0001-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](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
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Characterization of 14 novel deletions underlying Rubinstein–Taybi
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://i1.rgstatic.net/publication/344423248_Rubinstein-Taybi_syndrome_in_diverse_populations/links/6072a37ba6fdcc5f7798497a/largepreview.png)
PDF) Rubinstein-Taybi syndrome in diverse populations
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig4_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://onlinelibrary.wiley.com/cms/asset/26b344b3-cc56-4d1e-a9d4-71e28d75f355/ajmga38626-fig-0003-m.jpg)
Further delineation of an entity caused by CREBBP and EP300
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-021-94958-z/MediaObjects/41598_2021_94958_Fig1_HTML.png)
Clinical relevance of postzygotic mosaicism in Cornelia de Lange
![Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes](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
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