{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:03:32Z","timestamp":1787313812970,"version":"build-2736575974"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T00:00:00Z","timestamp":1700006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Government of India","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,21]]},"abstract":"<jats:p>Basan syndrome is a rare ectodermal dysplasia characterized by a triad of adermatoglyphia, reticulate pigmentation and nail dystrophy, in addition to transient neonatal findings of acral blistering and facial milia. The genetic basis was recently established to be heterozygous mutations affecting the skin-specific isoform of SMARCAD1. It is now considered part of the spectrum of disorders resulting from haploinsufficiency of this isoform, which includes both Huriez syndrome and autosomal dominant adermatoglyphia. Here, we describe a family with Basan syndrome from South India with a novel SMARCAD1 variant (c.378+1delGTAA) affecting the known mutational hotspot in exon 1.<\/jats:p>","DOI":"10.1093\/ced\/llad393","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:14:31Z","timestamp":1699964071000},"page":"437-440","source":"Crossref","is-referenced-by-count":1,"title":["Basan syndrome in a family from South India: a novel\n                    <i>SMARCAD1<\/i>\n                    variant"],"prefix":"10.1093","volume":"49","author":[{"given":"Irene","family":"Mathews","sequence":"first","affiliation":[{"name":"Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research , Puducherry , India"},{"name":"Department of Dermatology , AIIMS, Patna , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivangi","family":"Wagh","sequence":"additional","affiliation":[{"name":"Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics , Hyderabad, Telangana , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimin","family":"Baby","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research , Puducherry , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laxmisha","family":"Chandrashekar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research , Puducherry , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics , Hyderabad, Telangana , 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Dermatol"},{"key":"2024032121314396800_llad393-B7","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1002\/ajmg.a.40485","article-title":"Basan gets a new fingerprint: mutations in the skin-specific isoform of smarcad1 cause ectodermal dysplasia syndromes with adermatoglyphia","volume":"176","author":"Valentin","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2024032121314396800_llad393-B8","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/ejhg.2016.15","article-title":"Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome","volume":"24","author":"Li","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2024032121314396800_llad393-B9","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1086\/507792","article-title":"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14","volume":"79","author":"Lugassy","year":"2006","journal-title":"Am J Hum Genet"},{"key":"2024032121314396800_llad393-B10","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1111\/bjd.13176","article-title":"Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes","volume":"171","author":"Nousbeck","year":"2014","journal-title":"Br J Dermatol"}],"container-title":["Clinical and Experimental 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