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Article

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.

BMC pediatrics - 11 Mar 2026

Liu Ruo-Yan, Dai Yang-Li, Zou Chao-Chun

Abstract excerpt

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 were unremarkable. However, his fingers could not be extended straight when he was about 2 years old. Snoring was also...

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Identifiers

PMID: 41814247
DOI: 10.1186/s12887-026-06630-y
PMCID: PMC13093935

Genes

IDS

Variants

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