Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein
Por um escritor misterioso
Last updated 07 julho 2024
April is diagnosed with Rubinstein-Taybi syndrome. She is nonverbal and not yet able to communicate verbally. Her sister, Rachel, is studying to become a
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://media.springernature.com/lw685/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
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://assets.cureus.com/uploads/figure/file/9617/article_river_ed394b40c0fe11e68ac149b8cc1ac905-Figure_1.png)
Cureus, Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://i1.rgstatic.net/publication/227856988_Infantile_glaucoma_in_Rubinstein-Taybi_syndrome/links/550343b90cf24cee39fd6f77/largepreview.png)
PDF) Infantile glaucoma in Rubinstein-Taybi syndrome
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs10875-020-00808-4/MediaObjects/10875_2020_808_Figa_HTML.png)
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2016.47/MediaObjects/41431_2016_Article_BFejhg201647_Fig1_HTML.jpg)
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rubinstein Taybi Syndrome - MEDizzy
The Rubinstein-Taybi Syndrome Children's Foundation
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs12098-015-1891-3/MediaObjects/12098_2015_1891_Fig1_HTML.gif)
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation
![Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs40477-020-00491-6/MediaObjects/40477_2020_491_Fig1_HTML.jpg)
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
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