{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:00:57Z","timestamp":1790434857426,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":133,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ZE 524\/2-3"],"award-info":[{"award-number":["ZE 524\/2-3"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1002\/humu.22795","type":"journal-article","created":{"date-parts":[[2015,3,31]],"date-time":"2015-03-31T19:43:17Z","timestamp":1427830997000},"page":"593-598","source":"Crossref","is-referenced-by-count":43,"title":["<i>DOCK6<\/i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies"],"prefix":"10.1155","volume":"36","author":[{"given":"Maja","family":"Sukalo","sequence":"first","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Tilsen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department; Istanbul Medical Faculty; Istanbul Turkey"},{"name":"Medical Genetics Department; School of Medicine; Koc University; Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik; Klinikum Chemnitz; Chemnitz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics; Istanbul University; Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah M.","family":"Ruddy","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Guy's Hospital; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service; North West London Hospitals NHS Trust; Harrow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen Helene","family":"\u00d8rstavik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Oslo University Hospital; Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie M.","family":"Snape","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; St. George's Healthcare NHS Trust; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Trembath","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Guy's Hospital; London UK"},{"name":"Barts and The London School of Medicine and Dentistry; Queen Mary University of London; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryse","family":"De Smedt","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Leuven University Hospital; Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"van der Aa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Skalej","sequence":"additional","affiliation":[{"name":"Institute of Neuroradiology; University Hospital Magdeburg; Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Institute for Medical and Human Genetics Charit\u00e9; Universit\u00e4tsmedizin Berlin and Max Planck Institute for Molecular Genetics Berlin; Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Antwerp University Hospital; Antwerp Belgium"},{"name":"Department of Medical Genetics; University of Antwerp; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Southgate","sequence":"additional","affiliation":[{"name":"Barts and The London School of Medicine and Dentistry; Queen Mary University of London; London UK"},{"name":"Division of Genetics and Molecular Medicine; King's College London; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[[2015,4,21]]},"reference":[{"key":"10.1002\/humu.22795-BIB0001|humu22795-cit-0001","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1093\/oxfordjournals.jhered.a105415","article-title":"Hereditary deformities in man due to arrested development","volume":"36","author":"Adams","year":"1945","journal-title":"J Hered"},{"key":"10.1002\/humu.22795-BIB0002|humu22795-cit-0002","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1002\/ajmg.a.32357","article-title":"Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome","volume":"146A","author":"Brancati","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22795-BIB0003|humu22795-cit-0003","doi-asserted-by":"crossref","first-page":"4901","DOI":"10.1242\/jcs.00219","article-title":"Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity","volume":"115","author":"Cote","year":"2002","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.22795-BIB0004|humu22795-cit-0004","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ajhg.2012.07.005","article-title":"RBPJ mutations identified in two families affected by Adams-Oliver syndrome","volume":"91","author":"Hassed","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22795-BIB0005|humu22795-cit-0005","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1002\/ajmg.a.36486","article-title":"Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations","volume":"164A","author":"Isrie","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22795-BIB0006|humu22795-cit-0006","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1002\/ajmg.a.36685","article-title":"Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations","volume":"164A","author":"Lehman","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22795-BIB0007|humu22795-cit-0007","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.yexcr.2006.11.017","article-title":"Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth","volume":"313","author":"Miyamoto","year":"2007","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.22795-BIB0008|humu22795-cit-0008","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/ajmg.1320590118","article-title":"Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?","volume":"59","author":"Orstavik","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22795-BIB0009|humu22795-cit-0009","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/MCD.0b013e328010b81c","article-title":"Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption","volume":"16","author":"Prothero","year":"2007","journal-title":"Clin Dysmorphol"},{"key":"10.1002\/humu.22795-BIB0010|humu22795-cit-0010","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/j.ajhg.2013.02.012","article-title":"Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome","volume":"92","author":"Shaheen","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22795-BIB0011|humu22795-cit-0011","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.ajhg.2011.07.009","article-title":"Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome","volume":"89","author":"Shaheen","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22795-BIB0012|humu22795-cit-0012","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1002\/ajmg.a.32708","article-title":"The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects","volume":"149A","author":"Snape","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22795-BIB0013|humu22795-cit-0013","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ajhg.2011.04.013","article-title":"Gain-of-function mutations of ARHGAP31, a Cdc42\/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies","volume":"88","author":"Southgate","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22795-BIB0014|humu22795-cit-0014","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ajhg.2014.07.011","article-title":"Mutations in NOTCH1 cause Adams-Oliver syndrome","volume":"95","author":"Stittrich","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22795-BIB0015|humu22795-cit-0015","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<49::AID-AJMG10>3.0.CO;2-M","article-title":"Vascular abnormalities in Adams-Oliver syndrome: cause or effect?","volume":"82","author":"Swartz","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22795-BIB0016|humu22795-cit-0016","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1042\/BC20050101","article-title":"The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA","volume":"98","author":"Tcherkezian","year":"2006","journal-title":"Biol Cell"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22795","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22795\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:21Z","timestamp":1672332801000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22795","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}