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    Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome | NEJM
    1
    1. ClingenBaseline 23 Oct 2026
      8

      Case#: Patient No. 8, Persian ethnic group, female, 1.97 years old (age at time of gene therapy),

      DiseaseAssertion: MPS-IH

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: Yes

      Variant1: c.656G>A (p.G219E)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355962006

      Variant2: c.1104_1105delCT (p.F369PfsX29)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586965957

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CA355962006 CA2586965957 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    nejm.org/doi/full/10.1056/NEJMoa2106596