{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:31:31Z","timestamp":1792092691758,"version":"4.4.0"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T00:00:00Z","timestamp":1645747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012295","name":"NIHR Newcastle Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012295","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep sequencing followed by Sanger validation, confirmed the presence of germline causative\n                    <jats:italic>SMARCAD1<\/jats:italic>\n                    heterozygous pathogenic variants. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32\u2009years of age. Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon\u2010intron boundary of the skin\u2010specific\n                    <jats:italic>SMARCAD1<\/jats:italic>\n                    isoform. On the basis of phenotypic and genotypic convergence with Adermatoglyphia (OMIM136000) and Basan syndrome (OMIM129200), our results lend credence to the notion that these three Mendelian disorders are allelic. We propose adding Huriez syndrome to the previously suggested SMARCAD syndrome designation, which was originally invoked to describe the spectrum of monogenic disorders between Adermatoglyphia and Basan syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62703","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T03:01:24Z","timestamp":1645758084000},"page":"1752-1760","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Huriez syndrome: Additional pathogenic variants supporting allelism to\n                    <scp>SMARCAD<\/scp>\n                    syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Abigail Y. T.","family":"Loh","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS) Agency for Science, Technology and Research (A*STAR)  Singapore"},{"name":"Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanja","family":"\u0160poljar","sequence":"additional","affiliation":[{"name":"Department for Dermatovenereology University Hospital Center \u201cSestre Milosrdnice\u201d  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Granville Y. W.","family":"Neo","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS) Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Escande\u2010Beillard","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS) Agency for Science, Technology and Research (A*STAR)  Singapore"},{"name":"Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)  Singapore"},{"name":"Medical Genetics Department, School of Medicine Ko\u00e7 University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Leushacke","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique N. H.","family":"Luijten","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byrappa","family":"Venkatesh","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Bonnard","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice A. M.","family":"van Steensel","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR)  Singapore"},{"name":"Lee Kong Chian School of Medicine, Experimental Medicine Building, Yunnan Garden Campus Nanyang Technological University  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Hamm","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Hospital Wuerzburg  Wuerzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Carmichael","sequence":"additional","affiliation":[{"name":"Department of Dermatology James Cook University Hospital  Middlesbrough 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