Publications:

Editorial: The genetics of human Mendelian skin disorders.

Frontiers In Genetics

Yap, Wei Hsum WH; Zhang, Jia J; Li, Ming M; Guo, Yiran Y

Publication Date: 2022

Variant appearance in text: CREBBP: Gln870Ter

PubMed Link: 36531233

Variant Present in the following documents:

• Main text
• fgene-13-1061724.pdf

View BVdb publication page

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.

Frontiers In Genetics

Lee, Yu-Rong YR; Lin, Yu-Chen YC; Chang, Yi-Han YH; Huang, Hsin-Yu HY; Hong, Yi-Kai YK; Aala, Wilson Jr F WJF; Tu, Wei-Ting WT; Tsai, Meng-Che MC; Chou, Yen-Yin YY; Hsu, Chao-Kai CK

Publication Date: 2022

Variant appearance in text: CREBBP: 2608C>T

PubMed Link: 35464843

Variant Present in the following documents:

• Main text
• fgene-13-848879.pdf

View BVdb publication page