Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene
Abstract Background GM3 synthase deficiency (GM3SD) is an autosomal recessive disorder resulting from mutations in the ST3GAL5 gene. It is characterized by intellectual disability, microcephaly, psychomotor and developmental delay, hearing and visual impairments, and changes in skin pigmentation. Th...
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| Główni autorzy: | , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2024-11-01
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| Seria: | Orphanet Journal of Rare Diseases |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s13023-024-03369-6 |
| Etykiety: |
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