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Sep 2026

Multigenerational Huriez syndrome with marked intrafamilial heterogeneity and cutaneous squamous cell carcinoma burden.

Huriez syndrome is a rare SMARCAD1-associated genodermatosis with variable clinical expression and cutaneous cancer risk. We describe a multigenerational family with a SMARCAD1 splice-site duplication affecting the skin-specific isoform, associated with marked phenotypic heterogeneity. This case highlights the importan...

B. Doolan, Yi-Ming Wang, I. Lara-Corrales et al. · 0 citations

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