A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
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![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig5_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://onlinelibrary.wiley.com/cms/asset/219453ee-7715-4224-86aa-0868af19ee0d/cge13493-toc-0001-m.jpg?trick=1700875205935)
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g001a.png)
IJMS, Free Full-Text
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Rubinstein–Taybi syndrome - Wikipedia
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://ars.els-cdn.com/content/image/1-s2.0-S1534580718301072-fx1.jpg)
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-019-1022-8/MediaObjects/13023_2019_1022_Fig1_HTML.png)
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://onlinelibrary.wiley.com/cms/asset/7638ac41-581b-4520-bbbd-8c553b3e4e8c/mfig001.jpg)
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://onlinelibrary.wiley.com/cms/asset/c6f51067-cd22-4999-840d-062cc0dd72f1/ajmga61888-fig-0005-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://onlinelibrary.wiley.com/cms/asset/2e25c837-deeb-40df-8f31-7a4bd9b0fb5d/ajmga61888-fig-0001-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627193219-61475-mediumThumb-S1462399407000415_tab1.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](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
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PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://www.researchgate.net/publication/259530224/figure/fig1/AS:601604919152664@1520445198579/Microdeletions-and-mutations-of-CREBBP-CBP-gene-can-cause-Rubinstein-Taybi-syndrome.png)
Microdeletions and mutations of CREBBP (CBP) gene can cause
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://onlinelibrary.wiley.com/cms/asset/8ef6774b-0058-4028-9b5a-391526910e17/mgg3972-fig-0001-m.jpg)
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part](https://www.researchgate.net/profile/Farid-Ullah-3/publication/370362559/figure/fig2/AS:11431281154702412@1682954957124/Affected-individuals-display-CFAs-and-limb-abnormalities-A-to-D-Affected-individual-at_Q320.jpg)
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
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por adulto (o preço varia de acordo com o tamanho do grupo)