Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity - Top-Institutions - MDSpire

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity

  • By

  • Hua Wang

  • Weirong Xing

  • June 30, 2026

  • 0 min

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Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

    Mayo Clinic
    Mayo Clinic

    Rochester, Minnesota

    Key Differentiators

    • Genetics

  • #2

    Fujian Neuromedical Centre
    Fujian Neuromedical Centre

    Fuzhou, Fujian

    Key Differentiators

    • Genetics

Original Source(s)

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity

  • by Hua Wang, Weirong Xing

  • June 30, 2026

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