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

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

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

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

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library

Involvement of LRP and uPA catalytic activity in uPA-induced