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

Background: Recently, the hemizygous variation of SSR4 gene has been reported to be associated with congenital disorder of glycosylation type Iy. To date, only 13 patients have been diagnosed with SSR4-CDG in the worldwide, but it has not been reported in the Chinese population. Methods: Whole-exome...

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Detalles Bibliográficos
Autores principales: Wang, Jun, Gou, Xingqing, Wang, Xiyi, Zhang, Jing, Zhao, Nan, Wang, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643473/
https://www.ncbi.nlm.nih.gov/pubmed/36386804
http://dx.doi.org/10.3389/fgene.2022.955732

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643473/
https://www.ncbi.nlm.nih.gov/pubmed/36386804
http://dx.doi.org/10.3389/fgene.2022.955732

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