(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

COL4A2 mutation associated with familial porencephaly and small-vessel disease

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

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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

Rubinstein-Taybi syndrome: Multisystem involvement and its clinical

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

COL4A2 mutation associated with familial porencephaly and small-vessel disease

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Urokinase-Type Plasminogen Activator Deficiency in Bone Marrow–Derived Cells Augments Rupture of Angiotensin II–Induced Abdominal Aortic Aneurysms

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

Urokinase-Type Plasminogen Activator Deficiency in Bone Marrow–Derived Cells Augments Rupture of Angiotensin II–Induced Abdominal Aortic Aneurysms

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities