A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis

Authors: Wenqiang Sun, Xinyun Jin, Xueping Zhu

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: SSR4 gene, congenital disorders of glycosylation, developmental delay, feeding difficulty, X-linked disease, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1402883/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/b7ba56e2940e42c083ddfa5d1bd5c69a

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review

Authors: Jun Wang, Xingqing Gou, Xiyi Wang, Jing Zhang, Nan Zhao, Xiaohong Wang

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: SSR4 gene, congenital disorder of glycosylation, type Iy, psychomotor retardation, microcephaly, X-linked SSR4-CDG, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.955732/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/498923f166314b188538c7e724bd22ce