(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 setembro 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/610bdf8c169a1a0103de86f7/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://www.researchgate.net/publication/363483490/figure/fig1/AS:11431281187282640@1694168982952/Study-flow-CKD-chronic-kidney-disease-PCI-percutaneous-coronary-intervention-CABG_Q320.jpg)
Taek Kyu Park's research works Samsung Medical Center, Seoul and other places
![(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.2014.181/MediaObjects/41431_2015_Article_BFejhg2014181_Fig1_HTML.jpg)
Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
![(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_Fig1_HTML.jpg)
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://www.researchgate.net/publication/370181963/figure/fig1/AS:11431281152736151@1682129886846/Photographs-of-the-proband-a-Photos-of-the-face-low-facial-hairline-5cm-high_Q320.jpg)
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
![(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/chp%3A10.1007%2F978-3-662-46258-4_6-1/MediaObjects/334571_0_En_6-1_Fig59_HTML.jpg)
Malformations of Cortical Development
![(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%2Fejhg.2015.77/MediaObjects/41431_2016_Article_BFejhg201577_Fig2_HTML.jpg)
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
![(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/359139134_Identical_EP300_variant_leading_to_Rubinstein-Taybi_syndrome_with_different_clinical_and_immunologic_phenotype/links/63d38a12c97bd76a823c8858/largepreview.png)
PDF) Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
![(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%2Fejhg.2014.107/MediaObjects/41431_2015_Article_BFejhg2014107_Fig4_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://www.researchgate.net/publication/370181963/figure/fig3/AS:11431281152726486@1682129889560/Sequence-analysis-and-identification-of-the-novel-mutations-of-EP300-in-the-affected_Q320.jpg)
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
![(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_Fig3_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%2F73536/MediaObjects/41588_2000_Article_BFng0300_300_Fig2_HTML.gif)
Mutations truncating the EP300 acetylase in human cancers
![(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%3A10.1038%2Fjhg.2011.18/MediaObjects/10038_2011_Article_BFjhg201118_Fig4_HTML.jpg)
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
![(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.2012.155/MediaObjects/41431_2013_Article_BFejhg2012155_Fig1_HTML.jpg)
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
![(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
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