Rubinstein‐Taybi syndrome in Chinese population with four novel
Por um escritor misterioso
Last updated 02 julho 2024
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://onlinelibrary.wiley.com/cms/asset/10bc6d5c-bf71-4622-99f1-73782f9d9288/ajmga61922-fig-0002-m.jpg)
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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://onlinelibrary.wiley.com/cms/asset/ed3e21b0-cf22-4dab-bcd1-fe2880920eaa/mgg31009-toc-0001-m.jpg?trick=1699993250425)
Clinical exome sequencing identifies novel CREBBP variants in 18
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01424-4/MediaObjects/12920_2022_1424_Fig1_HTML.jpg)
Case report: a Chinese girl like atypical Rubinstein–Taybi
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://onlinelibrary.wiley.com/cms/asset/b28d5340-2e7a-46de-9f47-fbae9d690aa3/mgg32192-toc-0001-m.jpg?trick=1698759674789)
Novel heterozygous variants in the EP300 gene cause Rubinstein
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://onlinelibrary.wiley.com/cms/asset/788505c9-dd5b-4ed2-bc06-19359d6eab1e/ajmga61888-fig-0002-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo
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Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://www.researchgate.net/profile/Frans-Riemslag/publication/12319679/figure/fig1/AS:282278203805701@1444311776917/figure-fig1_Q320.jpg)
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117
![Rubinstein‐Taybi syndrome in Chinese population with four novel](https://europepmc.org/articles/PMC4918723/bin/10-1055-s-0035-1564571-i1508-2.jpg)
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Volume 19 Issue 1, January 2011
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