Phosphoserine aminotransferase deficiency diagnosed by whole ‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature

ConclusionsOur findings demonstrate the importance of WES combined with LC –MS/MS reanalysis in the diagnosis of genetic diseases and expand thePSAT1 variant spectrum in PSATD. Moreover, we summarize all the cases caused byPSAT1 variants in the literature. This case provides a vital reference for the diagnosis of future cases.

Source: Molecular Genetics & Genomic Medicine - March 28, 2024 Category: Genetics & Stem Cells Authors: Jiaci Li, Xinping Wei, Yuchen Sun, Xiaofang Chen, Ying Zhang, Xiaoyu Cui, Jianbo Shu, Dong Li, Chunquan Cai Tags: CLINICAL REPORT Source Type: research