Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review
Abstract Objective To highlight the mutations of the iduronate-2-sulfatase (IDS) gene in one family with different origins. Case presentation The proband (case 1) was a 4-year and 7-month-old boy who presented for "inability to fully extend his fingers for over 2 years". His developmental milestones...
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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMC
2026-03-01
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| Collection: | BMC Pediatrics |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1186/s12887-026-06630-y |
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