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

por 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
Publicado 2021