{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:44:30Z","timestamp":1787316270043,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T00:00:00Z","timestamp":1538697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin\u2010specific isoform of the gene\n                    <jats:italic>SMARCAD1<\/jats:italic>\n                    have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (\n                    <jats:italic>\n                      <jats:bold>S<\/jats:bold>\n                      MARCAD1\n                    <\/jats:italic>\n                    \u2010associated congenital facial\n                    <jats:bold>M<\/jats:bold>\n                    ilia,\n                    <jats:bold>A<\/jats:bold>\n                    dermatoglyphia,\n                    <jats:bold>R<\/jats:bold>\n                    educed sweating,\n                    <jats:bold>C<\/jats:bold>\n                    ontractures,\n                    <jats:bold>A<\/jats:bold>\n                    cral Bullae, and\n                    <jats:bold>D<\/jats:bold>\n                    ystrophy of nails). Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank\n                    <jats:italic>SMARCAD1<\/jats:italic>\n                    . Sanger sequencing revealed a novel variant, NM_001254949.1:c.\u201010\u2009+\u20092 T\u2009&gt;\u2009G, in the donor splice site of exon 1 of the skin\u2010specific isoform. This variant and the other five previously reported variants in Basan syndrome and ADG are all within the same donor splice site. We conclude that Basan syndrome and ADG are on a phenotypic spectrum of a monogenic syndrome which is better described by the acronym SMARCAD syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.40485","type":"journal-article","created":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T05:42:23Z","timestamp":1538804543000},"page":"2451-2455","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Basan gets a new fingerprint: Mutations in the skin\u2010specific isoform of\n                    <i>SMARCAD1<\/i>\n                    cause ectodermal dysplasia syndromes with adermatoglyphia"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8683-7850","authenticated-orcid":false,"given":"Monica N.","family":"Valentin","sequence":"first","affiliation":[{"name":"Division of Dermatology Children's National Health System  Washington District of Columbia"},{"name":"Department of Dermatology Washington Hospital Center\/Georgetown University Hospital  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8826-1023","authenticated-orcid":false,"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[{"name":"GeneDx Inc.  Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[{"name":"GeneDx Inc.  Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland"},{"name":"Division of Genetics and Metabolism Children's National Health System  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Yasmine","family":"Kirkorian","sequence":"additional","affiliation":[{"name":"Division of Dermatology Children's National Health System  Washington District of Columbia"},{"name":"Department of Dermatology George Washington University School of Medicine &amp; Health Sciences  Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6281"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80610-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00514755"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/345542a0"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.013"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(95)90394-1"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.48.3.191"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annder.2008.09.018"},{"key":"e_1_2_9_10_1","volume-title":"Textbook of pediatric dermatology","author":"Harper J.","year":"2000"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.forsciint.2007.02.025"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.15"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70195-Y"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01473.x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36438"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.004"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13176"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160113"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32864"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.40485","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T09:14:55Z","timestamp":1694682895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,5]]},"references-count":18,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/ajmg.a.40485"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40485","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,5]]},"assertion":[{"value":"2018-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}