Yu-Rong Lee Yu-Chen Lin Yi-Han Chang Hsin-Yu Huang Yi-Kai Hong Wilson Jr F Aala Wei-Ting Tu Meng-Che Tsai Yen-Yin Chou Chao-Kai Hsu
10.3389/fgene.2022.848879
Front Genet
2022 Apr 8;13:848879.
crebbp (crebb binding protein) genetic diagnosis multiplex ligation-dependent probe amplification next-generation sequencing novel variant rubinstein-taybi syndrome whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/35464843/
PMC9024331
35464843
Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
2022