Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Varian...

por Lee, Yu-Rong, Lin, Yu-Chen, Chang, Yi-Han, Huang, Hsin-Yu, Hong, Yi-Kai, Aala, Wilson Jr F., Tu, Wei-Ting, Tsai, Meng-Che, Chou, Yen-Yin, Hsu, Chao-Kai
Publicado 2022