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

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

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Medicine & Life Sciences