Jiaxin Xue Jin Han Xiaopeng Zhao Li Zhen Shanshan Mei Zhiyang Hu Xiuzhen Li
10.3389/fgene.2021.752272
Front Genet
2022 Feb 4;12:752272.
taldo1 transaldolase deficiency pentose phosphate pathway prenatal diagnosis whole-exome sequencing (wes)
CC BY
https://pubmed.ncbi.nlm.nih.gov/35186000/
Case Reports
PMC8855097
35186000
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
2022