Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Por um escritor misterioso
Last updated 03 julho 2024
![Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP](https://jmg.bmj.com/content/jmedgenet/39/7/496/F1.large.jpg)
![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/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g001a.png)
IJMS, 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/93e12f4233dd0bea00597c5054316fea409cc126/6-Figure1-1.png)
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations
![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/chp%3A10.1007%2F978-1-4614-6430-3_207-2/MediaObjects/271938_0_En_207-2_Fig1a_HTML.jpg)
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://0.academia-photos.com/attachment_thumbnails/44450372/mini_magick20190214-26026-1o36a09.png?1550180218)
PDF) Rubinstein-Taybi syndrome medical guidelines
![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/c5d7dea1-848e-4b28-9475-24fafff19e8c/mgg3972-fig-0002-m.jpg)
New insights into genetic variant spectrum and genotype–phenotype
![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://0.academia-photos.com/attachment_thumbnails/45534008/mini_magick20190211-19256-1gfmsoz.png?1549949960)
PDF) Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations 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/95fb8327-f3f0-4c46-8b9d-5e6bb0f3ee03/cge12537-fig-0001-m.jpg)
Insights into genotype–phenotype correlations from CREBBP point
![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/full/springer-static/image/art%3A10.1038%2Fejhg.2010.1/MediaObjects/41431_2010_Article_BFejhg20101_Fig1_HTML.jpg)
High frequency of copy number imbalances in Rubinstein–Taybi
![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/chp%3A10.1007%2F978-1-4614-1037-9_207/MediaObjects/978-1-4614-1037-9_207_Fig2_HTML.gif)
Rubinstein-Taybi Syndrome
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