PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Por um escritor misterioso
Last updated 05 julho 2024
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://i1.rgstatic.net/publication/353713594_Identification_of_de_novo_EP300_and_PLAU_variants_in_a_patient_with_Rubinstein-Taybi_syndrome-related_arterial_vasculopathy_and_skeletal_anomaly/links/610cc817169a1a0103e2416f/largepreview.png)
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fsrep26440/MediaObjects/41598_2016_Article_BFsrep26440_Fig1_HTML.jpg)
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2014.107/MediaObjects/41431_2015_Article_BFejhg2014107_Fig1_HTML.jpg)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fsj.ejhg.5201823/MediaObjects/41431_2007_Article_BF5201823_Fig1_HTML.gif)
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-023-01516-9/MediaObjects/12920_2023_1516_Fig1_HTML.png)
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fjhg.2017.48/MediaObjects/10038_2017_Article_BFjhg201748_Fig2_HTML.jpg)
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://i1.rgstatic.net/publication/40685299_Persons_with_Quebec_platelet_disorder_have_a_tandem_duplication_of_PLAU_the_urokinase_plasminogen_activator_gene/links/58fa627e4585152edececb33/largepreview.png)
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://www.ahajournals.org/cms/asset/cb0cd383-d0e5-4fb3-9078-e4c82546af8b/zhq0111195680002.jpg)
Urokinase-Type Plasminogen Activator Deficiency in Bone Marrow–Derived Cells Augments Rupture of Angiotensin II–Induced Abdominal Aortic Aneurysms
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](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
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41431-019-0418-1/MediaObjects/41431_2019_418_Fig4_HTML.png)
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig5_HTML.png)
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01424-4/MediaObjects/12920_2022_1424_Fig3_HTML.png)
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-018-0548-2/MediaObjects/12881_2018_548_Fig2_HTML.gif)
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
![PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12881-018-0548-2/MediaObjects/12881_2018_548_Fig1_HTML.gif)
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
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