article_metadata: 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
article_metadata: 10.3389/fgene.2022.848879
article_metadata: Front Genet
article_metadata: 2022 Apr 8;13:848879.
article_metadata: crebbp (crebb binding protein) genetic diagnosis multiplex ligation-dependent probe amplification next-generation sequencing novel variant rubinstein-taybi syndrome whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35464843/
article_metadata: PMC9024331
article_metadata: 35464843
article_metadata: 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
article_metadata: 2022