(PDF) 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

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Taek Kyu Park's research works Samsung Medical Center, Seoul and other places

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

Novel missense COL2A1 variant in a fetus with achondrogenesis type II

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

PDF) Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

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

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

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