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

Jong Eun Park, Eunmi Kim, Dong Won Lee, Taek Kyu Park, Min Sun Kim, Shin Yi Jang, Jaemyung Ahn, Kwang Bo Park, Keon Ha Kim, Hae Chul Park, Chang Seok Ki, Duk Kyung Kim

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Medicine & Life Sciences