{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:55:23Z","timestamp":1790207723195,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T00:00:00Z","timestamp":1564531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003390","name":"Fritz Thyssen Stiftung","doi-asserted-by":"publisher","award":["AZ 10.15.2.040MN"],"award-info":[{"award-number":["AZ 10.15.2.040MN"]}],"id":[{"id":"10.13039\/501100003390","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":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS) is a rare congenital disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It shows significant genetic heterogeneity and can be transmitted by autosomal dominant or recessive inheritance. Recessive inheritance is associated with mutations of <jats:italic>DOCK6<\/jats:italic> or <jats:italic>EOGT<\/jats:italic>; however, only few cases have been published so far. We present two families with <jats:italic>EOGT<\/jats:italic>\u2010associated AOS. Due to pseudodominance in one family, the recognition of the recessive inheritance pattern was difficult. We identified two novel AOS\u2010causing mutations (c.404G&gt;A\/p.Cys135Tyr and c.311+1G&gt;T). The phenotype in the presented families was dominated by large ACC, whereas TTLD were mostly subtle or even absent and no major malformations occured. Our observations along with the previously published cases indicate that the two types of recessive AOS (<jats:italic>EOGT\u2010<\/jats:italic> vs. <jats:italic>DOCK6\u2010associated<\/jats:italic>) differ significanty regarding the frequency of neurologic or ocular deficits.<\/jats:p>","DOI":"10.1002\/ajmg.a.61313","type":"journal-article","created":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T04:09:53Z","timestamp":1564632593000},"page":"2246-2251","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Adams\u2013Oliver syndrome caused by mutations of  the <i>EOGT<\/i> gene"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2093-7509","authenticated-orcid":false,"given":"Kim C.","family":"Schr\u00f6der","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Duman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetic Diseases, Department of Pediatrics Ankara University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Audiology Ankara University Faculty of Health Sciences  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3525-7960","authenticated-orcid":false,"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetic Diseases, Department of Pediatrics Ankara University Faculty of Medicine  Ankara Turkey"},{"name":"John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, and Department of Otolaryngology University of Miami Miller School of Medicine  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denny","family":"Schanze","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Sukalo","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephina","family":"Meester","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.159"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23567"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2012.01.098"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.24419"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.012"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.009"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32708"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001086"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.011"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22830"}],"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.61313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61313","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T19:27:06Z","timestamp":1694201226000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,31]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1002\/ajmg.a.61313"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61313","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,31]]},"assertion":[{"value":"2019-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}