RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Last updated 17 fevereiro 2025
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://medlineplus.gov/images/PX0003F3_PRESENTATION.jpeg)
Rubinstein-Taybi syndrome: MedlinePlus Genetics
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://bjo.bmj.com/content/bjophthalmol/84/10/1177/F1.large.jpg)
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://upload.wikimedia.org/wikipedia/commons/thumb/c/ce/Rubinstein-Taybi_Syndrome1.jpg/220px-Rubinstein-Taybi_Syndrome1.jpg)
Rubinstein–Taybi syndrome - Wikipedia
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://jmg.bmj.com/content/jmedgenet/44/5/327/F1.large.jpg)
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](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
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://www.researchgate.net/publication/45695194/figure/fig2/AS:267543680122945@1440798792593/Clinical-photos-of-the-patients-a-Case-1-Dysmorphic-facial-features-include.png)
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Rubenstein-Taybi syndrome, Psychology Wiki
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01335-4/MediaObjects/12920_2022_1335_Fig1_HTML.jpg)
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://www.researchgate.net/publication/265393298/figure/tbl1/AS:601747814875153@1520479267562/Rubinstein-Taybi-syndrome-Multisystem-involvement-and-its-clinical-implications.png)
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](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
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](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 syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
![RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated](https://onlinelibrary.wiley.com/cms/asset/eb51d41e-9ef4-4d97-8a58-ec0a39205ae2/ajmga61888-fig-0003-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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