Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Por um escritor misterioso
Last updated 04 julho 2024
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://static.hindawi.com/articles/crig/volume-2022/3388879/figures/3388879.fig.001c.jpg)
Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the <i>CREBBP</i> gene which is consistent with the clinical diagnosis of RSTS.
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g001a.png)
IJMS, Free Full-Text
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://0.academia-photos.com/attachment_thumbnails/69950810/mini_magick20210919-24780-1vv0al.png?1632112269)
PDF) Case Report: Rubinstein-Taybi Syndrome
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://i1.rgstatic.net/publication/370657722_Novel_heterozygous_variants_in_the_EP300_gene_cause_Rubinstein-Taybi_syndrome_2_Reports_from_two_Chinese_children/links/645d42844353ba3b3b5c290c/largepreview.png)
PDF) Novel heterozygous variants in the EP300 gene cause
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://onlinelibrary.wiley.com/cms/asset/a42408ac-b5a8-40f8-9a28-1f9b665fb99b/ajmga61888-fig-0004-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://0.academia-photos.com/attachment_thumbnails/106397469/mini_magick20231009-1-cnoh9x.png?1696842994)
PDF) Rubinstein-Taybi syndrome medical guidelines
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://www.researchgate.net/profile/Yunha-Kim-7/publication/259530224/figure/fig3/AS:601604919156743@1520445198650/figure-fig3_Q320.jpg)
PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://onlinelibrary.wiley.com/cms/asset/2deacd6b-63b2-499e-b632-825b2fd41505/ajmga37800-fig-0001-m.jpg)
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://0.academia-photos.com/attachment_thumbnails/46869565/mini_magick20190208-12281-elgzif.png?1549658922)
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://dermnetnz.org/assets/collection/Rubinstein-taybi-syndrome/rubinstein-taybi-syndrome-0003__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.jpg)
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://upload.wikimedia.org/wikipedia/commons/thumb/1/15/Taybi.jpg/300px-Taybi.jpg)
Rubinstein–Taybi syndrome - Wikiwand
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://static.hindawi.com/articles/crig/volume-2022/3388879/figures/3388879.fig.001c.jpg)
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://europepmc.org/articles/PMC3948208/bin/nihms-552680-f0002.jpg)
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://i.pinimg.com/originals/ee/9f/ce/ee9fce0215d5a5cda9dec2109b41d50e.jpg)
rubinstein-taybi syndrome adults - Google Search
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://upload.wikimedia.org/wikipedia/commons/0/09/Exome_Sequencing_Workflow_1a.png)
Exome Sequencing: Most Up-to-Date Encyclopedia, News & Reviews
![Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP](https://0.academia-photos.com/attachment_thumbnails/84768866/mini_magick20220423-23191-ab3ol0.png?1650773325)
PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma
Recomendado para você
-
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot04 julho 2024
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome04 julho 2024
-
Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are04 julho 2024
-
Rubinstein-Taybi syndrome associated with breast cancer — a case04 julho 2024
-
Broad thumbs and broad hallux: the hallmarks for the Rubinstein04 julho 2024
-
JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings04 julho 2024
-
Clinical photos of the patients. (a) Case 1: Dysmorphic facial04 julho 2024
-
From One Kid to Another - Complex Child04 julho 2024
-
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library04 julho 2024
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome04 julho 2024
você pode gostar
-
My Hero Academia Season 6 「AMV」- What I've Done04 julho 2024
-
Xbox 360 GTA 5 1.24 Online/Offline Mod Menu + Download─影片Dailymotion04 julho 2024
-
Funny Cooking Apron Stand Back Novelty Kitchen Black Aprons For Women And Men04 julho 2024
-
Tô Pouco Me Fodendo Em Ser um Santo, Sou Um Médico, Caralho04 julho 2024
-
Creeper Minecraft Paper Craft Model Free Printable Papercraft Templates04 julho 2024
-
The Devil Is A Part-Timer: Complete Collection (DVD) Nao Toyama Ryota Ohsaka04 julho 2024
-
6+ Thousand Chelsea Fc Royalty-Free Images, Stock Photos & Pictures04 julho 2024
-
Directeur de service - Roblox04 julho 2024
-
EA SPORTS FC Features Overview- Official Website04 julho 2024
-
Ninja World War: Global Force04 julho 2024