PDF) 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

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

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

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

Novel missense COL2A1 variant in a fetus with achondrogenesis type II

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

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association