{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:53Z","timestamp":1791561053201,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T00:00:00Z","timestamp":1779840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T00:00:00Z","timestamp":1779840000000},"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":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Adams\u2013Oliver syndrome (AOS) is characterized by scalp aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). Autosomal recessive AOS type 2 caused by\n                    <jats:italic>DOCK6<\/jats:italic>\n                    variants is usually accompanied by central\u2010nervous\u2010system and ocular anomalies. We report two unrelated children who each carried compound heterozygous\n                    <jats:italic>DOCK6<\/jats:italic>\n                    variants. Both presented with variable degrees of global developmental delay and visual impairment, but neither showed ACC or TTLD. Our observations highlight the phenotypic variability in\n                    <jats:italic>DOCK6<\/jats:italic>\n                    \u2010related AOS and a possible ascertainment bias in screening patients only with typical AOS phenotypes. Genome sequencing and related genetic testing techniques are advised.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70206","type":"journal-article","created":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T09:07:37Z","timestamp":1779872857000},"page":"2537-2541","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two Atypical Cases of Adams\u2013Oliver Syndrome With\n                    <scp>\n                      <i>DOCK6<\/i>\n                    <\/scp>\n                    Genetic Variants"],"prefix":"10.1002","volume":"200","author":[{"given":"Yan","family":"Bai","sequence":"first","affiliation":[{"name":"Clinical Medical College of Acupuncture Moxibustion and Rehabilitation, Guangzhou University of Chinese Medicine  Guangzhou China"},{"name":"Foshan Fosun Chancheng Hospital  Foshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxin","family":"Xu","sequence":"additional","affiliation":[{"name":"Foshan Fosun Chancheng Hospital  Foshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Xin","sequence":"additional","affiliation":[{"name":"Foshan Fosun Chancheng Hospital  Foshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Mo","sequence":"additional","affiliation":[{"name":"Foshan Fosun Chancheng Hospital  Foshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9439-7077","authenticated-orcid":false,"given":"Mingwei","family":"Huang","sequence":"additional","affiliation":[{"name":"Aegicare (Shenzhen) Technology Co. Ltd.  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunzhi","family":"Tang","sequence":"additional","affiliation":[{"name":"Clinical Medical College of Acupuncture Moxibustion and Rehabilitation, Guangzhou University of Chinese Medicine  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1776339"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/21541248.2017.1297882"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61364"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2025.1532561"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.18240\/ijo.2022.08.04"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.86442"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2024.103950"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.009"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22795"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.14594"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000450"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104653"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-025-02157-w"}],"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.70206","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70206","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:07:43Z","timestamp":1791558463000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,27]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["10.1002\/ajmg.a.70206"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70206","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,27]]},"assertion":[{"value":"2025-12-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}