Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children.

Caiqi Du,Zhuoguang Li,Biao Zou,Xuesong Li, Fan Chen,Yan Liang,Xiaoping Luo,Sainan Shu

Molecular genetics & genomic medicine（2023）

引用 0|浏览8

暂无评分

摘要

In our study, we identified two novel variants in the EP300 exon 22, and for the first time, we reported a case of RSTS2 associated with adrenal insufficiency, which will enrich the clinical and mutational spectrum of this syndrome.

查看译文

关键词

adrenal insufficiency, EP300, genotype, LC-MS, MS, Rubinstein-Taybi syndrome

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要