Babu, A., Kamaraj, M., Basu, M., Mukherjee, D., Kapoor, S., Ranjan, S., Swamy, M.M., Kaypee, S., Scaria, V., Kundu, T.K., Sachidanandan, C. (2018) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi syndrome in zebrafish. Biochimica et biophysica acta. 1864(4 Pt A):1203-1215
|
Park, J.E., Kim, E., Lee, D.W., Park, T.K., Kim, M.S., Jang, S.Y., Ahn, J., Park, K.B., Kim, K.H., Park, H.C., Ki, C.S., Kim, D.K. (2021) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly. Scientific Reports. 11:15931
|
Wu, Y., Xia, Y., Li, P., Qu, H.Q., Liu, Y., Yang, Y., Lin, J., Zheng, M., Tian, L., Wu, Z., Huang, S., Qin, X., Zhou, X., Chen, S., Liu, Y., Wang, Y., Li, X., Zeng, H., Hakonarson, H., Zhuang, J. (2020) Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome. Orphanet journal of rare diseases. 15:101
|
