Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627193127-09055-mediumThumb-S1462399407000415_fig4g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://ars.els-cdn.com/content/image/1-s2.0-S004681771500341X-gr1.jpg)
Identification of a novel de novo mutation of CREBBP in a patient
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://i1.rgstatic.net/publication/8369501_Loss_of_CBP_acetyltransferase_activity_by_PHD_finger_mutations_in_Rubinstein-Taybi_syndrome/links/02e7e53c67708ac253000000/largepreview.png)
PDF) Loss of CBP acetyltransferase activity by PHD finger
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://www.researchgate.net/profile/Neeti_Sharma/publication/45508569/figure/fig2/AS:277400018538497@1443148726344/A-Location-of-the-exon-CREBBP-mutations-found-in-this-study-Only-exons-are-drawn-to_Q320.jpg)
PDF) Spectrum of CREBBP mutations in Indian patients with
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g004.png)
Genes, Free Full-Text
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://d3i71xaburhd42.cloudfront.net/ea7f53316e48a4bede09af0216d43100c97da9c0/4-Table2-1.png)
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://onlinelibrary.wiley.com/cms/asset/4629f96b-a83f-4b49-987f-05cdaa206dd4/humu22922-fig-0003-m.jpg)
From Whole Gene Deletion to Point Mutations of EP300‐Positive
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://ars.els-cdn.com/content/image/1-s2.0-S1534580718301072-fx1.jpg)
Opposing Effects of CREBBP Mutations Govern the Phenotype of
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](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
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://i1.rgstatic.net/publication/336719091_Clinical_exome_sequencing_identifies_novel_CREBBP_variants_in_18_Chinese_Rubinstein-Taybi_Syndrome_kids_with_high_frequency_of_polydactyly/links/64d45d371290c33cce7dc839/largepreview.png)
PDF) Clinical exome sequencing identifies novel CREBBP variants in
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://onlinelibrary.wiley.com/cms/asset/562b7209-9329-442d-8b0f-e2027f7f9dd7/ced13871-fig-0001-m.jpg)
First case of Rubinstein–Taybi syndrome with desquamation
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://www.researchgate.net/profile/Wolfram-Kress/publication/11263208/figure/fig2/AS:669096685367310@1536536489334/Sequencing-gels-showing-CREBBP-mutations-in-genomic-DNA-forward-and-reverse-strands_Q320.jpg)
PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](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
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