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

ConclusionIn our study, we identified two novel variants in theEP300 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.

Source: Molecular Genetics & Genomic Medicine - May 11, 2023 Category: Genetics & Stem Cells Authors: Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu Tags: ORIGINAL ARTICLE Source Type: research