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 06 setembro 2024
![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%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](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
![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/profile/John-Waye/publication/40685299/figure/fig2/AS:485670268477441@1492804223652/Genotyping-assays-for-the-tandem-duplication-of-PLAU-in-QPD-Panels-compare-data-for_Q320.jpg)
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
![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_Fig2_HTML.jpg)
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
![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/40685299/figure/fig1/AS:485670268477440@1492804223612/Tandem-duplication-of-PLAU-in-subjects-with-QPD-and-alignment-of-the-junction-sequence.png)
Tandem duplication of PLAU in subjects with QPD and alignment of the
![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%2Fjhg.2011.18/MediaObjects/10038_2011_Article_BFjhg201118_Fig1_HTML.jpg)
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
![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.2014.18/MediaObjects/41431_2014_Article_BFejhg201418_Fig1_HTML.jpg)
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://onlinelibrary.wiley.com/cms/asset/c6f51067-cd22-4999-840d-062cc0dd72f1/ajmga61888-fig-0005-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![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%2Fs10038-020-0794-y/MediaObjects/10038_2020_794_Fig1_HTML.png)
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease
![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/profile/Patrizia-Colapietro/publication/6744123/figure/fig3/AS:216379933368322@1428600404118/Mapping-of-the-five-deletions-on-the-CREBBP-genomic-region-Top-genomic-organization-of_Q320.jpg)
Main clinical signs of the thirty-one Italian RSTS patients.
![Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly](https://c5.rgstatic.net/m/4671872220764/images/template/default/profile/profile_default_m.jpg)
PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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