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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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2022-10-01
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| Col·lecció: | Frontiers in Genetics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fgene.2022.955732/full |
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