Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Por um escritor misterioso
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![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://ars.els-cdn.com/content/image/1-s2.0-S0888754307001838-gr2.jpg)
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints - ScienceDirect
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://d3i71xaburhd42.cloudfront.net/93e12f4233dd0bea00597c5054316fea409cc126/7-Figure2-1.png)
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://i1.rgstatic.net/publication/45508569_Spectrum_of_CREBBP_mutations_in_Indian_patients_with_Rubinstein-Taybi_syndrome/links/0912f50f94916d52a8000000/largepreview.png)
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://www.researchgate.net/profile/Yunha-Kim-7/publication/259530224/figure/fig1/AS:601604919152664@1520445198579/Microdeletions-and-mutations-of-CREBBP-CBP-gene-can-cause-Rubinstein-Taybi-syndrome_Q320.jpg)
Microdeletions and mutations of CREBBP (CBP) gene can cause
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://onlinelibrary.wiley.com/cms/asset/c20289df-9328-4756-9bc8-924fb8fcdd9a/mgg31009-fig-0003-m.jpg)
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://0.academia-photos.com/attachment_thumbnails/71106546/mini_magick20211003-24152-1itl733.png?1633254030)
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://d3i71xaburhd42.cloudfront.net/ea7f53316e48a4bede09af0216d43100c97da9c0/3-Figure1-1.png)
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://onlinelibrary.wiley.com/cms/asset/3441471c-58d7-4f74-aabc-085b2d836df1/ajmga38603-fig-0002-m.jpg)
Benign and malignant tumors in Rubinstein–Taybi syndrome - Boot - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://ars.els-cdn.com/content/image/1-s2.0-S0888754307001838-gr1.jpg)
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints - ScienceDirect
![Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-020-01378-9/MediaObjects/13023_2020_1378_Fig4_HTML.png)
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
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