{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T19:59:58Z","timestamp":1792439998781,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"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":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance. Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. \u201cWhole\u201d exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in <jats:italic>ITGB4<\/jats:italic>. The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in <jats:italic>PLEC1<\/jats:italic>. The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant. <jats:italic>PLEC1<\/jats:italic> and <jats:italic>ITGB4<\/jats:italic> have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in <jats:italic>ITGB4<\/jats:italic> and <jats:italic>PLEC1<\/jats:italic>, and provide a short summary of other entities going along with ACC.<\/jats:p>","DOI":"10.1002\/ajmg.a.61260","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T13:20:52Z","timestamp":1560259252000},"page":"1547-1555","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Widespread aplasia cutis congenita in sibs with <i>PLEC1<\/i> and <i>ITGB4<\/i> variants"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4298-9147","authenticated-orcid":false,"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siavash","family":"Ghaderi\u2010Sohi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali R.","family":"Ghannadan","sequence":"additional","affiliation":[{"name":"Department of Dermatopathology Razi Dermatology Hospital, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Department of Pathology Cancer Institute, Imam Khomieni Hospital Complex, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Universal Scientific Education and Research Network (USERN)  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University  Philadelphia Pennsylvania"},{"name":"Department of Medical Genetics School of Medicine, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Genetics, Genomics and Cancer Biology PhD Program Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Parsimehr","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrshid","family":"Faraji Zonooz","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad H.","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"},{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6745-1522","authenticated-orcid":false,"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam UMC  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,11]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"993","volume-title":"Dermatology","author":"Antaya R.","year":"2012"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31903"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110308"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1747.2003.12639.x"},{"key":"e_1_2_6_6_1","first-page":"21","article-title":"Clinical aspects of congenital skin defects","volume":"121","author":"Demmel U.","year":"1975","journal-title":"The Journal of Pediatrics"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<495::AID-AJMG25>3.0.CO;2-L"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03968.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220481"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2017.1324545"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-013-2737-7"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60005-0"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-014-0088-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.609"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23564.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1285877"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61260","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61260","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:25:47Z","timestamp":1694327147000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,11]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/ajmg.a.61260"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61260","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,11]]},"assertion":[{"value":"2018-11-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}