{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:39Z","timestamp":1792658319026,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:00:00Z","timestamp":1697587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:00:00Z","timestamp":1697587200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report a novel homozygous 49.6\u2009kb deletion of chromosome 18q12.1 involving the last exon of\n                    <jats:italic>DSG3<\/jats:italic>\n                    in dizygotic twins with phenotype consistent with acantholytic blistering of the oral and laryngeal mucosa (ABOLM). The twin siblings presented predominantly with friability of the laryngeal and respiratory mucosa. This is only the second report in the literature of this unusual autosomal recessive blistering disorder. The diagnosis explains the mucosal phenotype of a pemphigus\u2010like disorder without evidence of autoimmune dysfunction. The exclusion of an autoimmune basis has management implications. The deletion also involved the\n                    <jats:italic>DSG2<\/jats:italic>\n                    gene, which is associated with arrhythmogenic right ventricular dysplasia (ARVD). The affected siblings and heterozygous parents do not show any cardiac phenotype at this time. Functional studies would further clarify how deletions resulting in loss of function of\n                    <jats:italic>DSG3<\/jats:italic>\n                    may cause the reported phenotypes of\n                    <jats:italic>DSG3<\/jats:italic>\n                    \u2010related ABOLM.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63447","type":"journal-article","created":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:49:15Z","timestamp":1697615355000},"page":"389-393","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous deletion of the\n                    <i>DSG3<\/i>\n                    terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4174-0657","authenticated-orcid":false,"given":"Nan","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Pathology &amp; Cell Biology Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"},{"name":"Department of Pathology and Laboratory Medicine Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor B.","family":"Sewell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa L.","family":"Kowalski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Rekab","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susannah","family":"Hills","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ladan","family":"Fazlollahi","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Cell Biology Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine T.","family":"Lauren","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"},{"name":"Department of Dermatology Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Morel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"},{"name":"Department of Dermatology Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons and New York\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; 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