{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T09:45:00Z","timestamp":1792057500246,"version":"4.4.0"},"reference-count":4,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"2025 Ellison-Cliffe Travelling Fellowship"},{"DOI":"10.13039\/501100000828","name":"Royal Society of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000828","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>SMARCAD1-palmoplantar epidermal differentiation disorder (formerly known as 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 article highlights the importance of molecular diagnosis for cancer surveillance and family counselling.<\/jats:p>","DOI":"10.1093\/ced\/llag413","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:57:11Z","timestamp":1790323031000},"source":"Crossref","is-referenced-by-count":0,"title":["Multigenerational\n                    <i>SMARCAD1<\/i>\n                    -palmoplantar epidermal differentiation disorder (formerly Huriez syndrome) with marked intrafamilial heterogeneity and cutaneous squamous cell carcinoma burden"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9497-0504","authenticated-orcid":false,"given":"Brent J","family":"Doolan","sequence":"first","affiliation":[{"name":"Division of Dermatology, The Hospital for Sick Children , Toronto, ON 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