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ArticleFrontiers in medicine2026

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.

Hua Wang et al.PubMed ↗Full text ↗Publisher ↗

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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. | OpenQuestion