Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Por um escritor misterioso
Last updated 07 julho 2024
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](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](https://onlinelibrary.wiley.com/cms/asset/963aeda4-b789-4799-95a5-fa1ce0533c19/mfig002.jpg)
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](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
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://onlinelibrary.wiley.com/cms/asset/788505c9-dd5b-4ed2-bc06-19359d6eab1e/ajmga61888-fig-0002-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://europepmc.org/articles/PMC4918723/bin/10-1055-s-0035-1564571-i1508-2.jpg)
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627192855-73615-mediumThumb-S1462399407000415_fig2g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://d3i71xaburhd42.cloudfront.net/21092426ad0461e9be145b0ff7a662fe9d57b145/2-Figure1-1.png)
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://ars.els-cdn.com/content/image/1-s2.0-S1873506118301454-gr9.jpg)
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://www.researchgate.net/profile/Deborah-Bartholdi-2/publication/6581909/figure/tbl1/AS:601779804856332@1520486894830/Skeletal-findings-of-patients-carrying-mutations-of-the-EP300-gene_Q320.jpg)
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://jmg.bmj.com/content/jmedgenet/44/5/327/F4.large.jpg)
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://ars.els-cdn.com/content/image/1-s2.0-S1110863012000316-gr1.jpg)
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://d3i71xaburhd42.cloudfront.net/93e12f4233dd0bea00597c5054316fea409cc126/7-Figure2-1.png)
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
![Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300](https://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g006.png?1626846418)
Genes, Free Full-Text
Recomendado para você
-
Ocular features in Rubinstein-Taybi syndrome: investigation of 2407 julho 2024
-
Autism Spectrum Disorder07 julho 2024
-
Facial features of Rubinstein-Taybi syndrome07 julho 2024
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome07 julho 2024
-
Dentocyclopedia - rubinstein taybi syndrome07 julho 2024
-
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment07 julho 2024
-
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural07 julho 2024
-
Internet Scientific Publications07 julho 2024
-
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library07 julho 2024
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome07 julho 2024
você pode gostar
-
Apresentamos a atualização de maio de Gran Turismo 7: Com 3 novos carros e novas opções de tuning! - NOTÍCIAS07 julho 2024
-
PowerColor Red Dragon AMD Radeon™ RX 6800 XT Gaming Graphics Card with 16GB GDDR6 Memory, Powered by AMD RDNA™ 2, Raytracing, PCI Express 4.0, HDMI 2.1, AMD Infinity Cache : Electronics07 julho 2024
-
Moldura PNG Jogo Fire Free - Imagem Legal07 julho 2024
-
Angels of Death Out Now on Nintendo Switch, News07 julho 2024
-
robloxanime #swordartonline #robloxanimegames #onepieceroblox #roblox07 julho 2024
-
TOP 7 Jogos de Terror Perturbadores de PS207 julho 2024
-
Annie's Song – música e letra de John Denver07 julho 2024
-
Pokemon Crystal Onix07 julho 2024
-
Grand Theft Auto 6 clips leaked, Rockstar Games release official07 julho 2024
-
Monitor Gamer GAMEMAX 27 PRETO LED Curvado 144Hz 1Ms Full HD, GMX27C144BR07 julho 2024