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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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
PDF) Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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
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
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
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
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
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
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
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
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
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
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
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
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics

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