Jun Wang Xingqing Gou Xiyi Wang Jing Zhang Nan Zhao Xiaohong Wang
10.3389/fgene.2022.955732
Front Genet
2022 Oct 26;13:955732.
ssr4 gene x-linked ssr4-cdg congenital disorder of glycosylation microcephaly psychomotor retardation type iy
CC BY
https://pubmed.ncbi.nlm.nih.gov/36386804/
Case Reports
PMC9643473
36386804
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review
2022