A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis
IntroductionCongenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders. Here, we investigate the clinical features and genetic variants of SSR4-CDG and conduct a preliminary investigation of i...
| Hlavní autoři: | , , |
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| Médium: | Článek |
| Jazyk: | English |
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Frontiers Media S.A.
2024-07-01
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| Edice: | Frontiers in Genetics |
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| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1402883/full |