{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:49:08Z","timestamp":1788871748187,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,8,4]],"date-time":"2014-08-04T00:00:00Z","timestamp":1407110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012280","name":"Rare Disease Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"crossref"}]},{"name":"BC Children's Hospital Foundation"},{"name":"University of Luxembourg - Institute for Systems Biology Program"},{"DOI":"10.13039\/501100001655","name":"German Academic Exchange Service","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001655","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Adams\u2010Oliver syndrome (AOS) is a rare malformation syndrome characterized by the presence of two anomalies: aplasia cutis congenita of the scalp and transverse terminal limb defects. Many affected individuals also have additional malformations, including a variety of intracranial anomalies such as periventricular calcification in keeping with cerebrovascular microbleeds, impaired neuronal migration, epilepsy, and microcephaly. Cardiac malformations can be present, as can vascular dysfunction in the forms of cutis marmorata telangiectasia congenita, pulmonary vein stenoses, and abnormal hepatic microvasculature. Elucidated genetic causes include four genes in different pathways, leading to a model of AOS as a multi\u2010pathway disorder. We identified an infant with mild aplasia cutis congenita and terminal transverse limb defects, developmental delay and a severe, diffuse angiopathy with incomplete microvascularization. Whole\u2010genome sequencing documented two rare truncating variants in\n                      <jats:italic>DOCK6<\/jats:italic>\n                      , a gene associated with a type of autosomal recessive AOS that recurrently features periventricular calcification and impaired neurodevelopment. We highlight an unexpectedly high frequency of likely deleterious mutations in this gene in the general population, relative to the rarity of the disease, and discuss possible explanations for this discrepancy. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36685","type":"journal-article","created":{"date-parts":[[2014,8,4]],"date-time":"2014-08-04T16:57:15Z","timestamp":1407171435000},"page":"2656-2662","source":"Crossref","is-referenced-by-count":34,"title":["Diffuse angiopathy in Adams\u2010Oliver syndrome associated with truncating\n                    <i>DOCK6<\/i>\n                    mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Anna","family":"Lehman","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Child and Family Research Institute University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Barbara","family":"Stittrich","sequence":"additional","affiliation":[{"name":"Institute for Systems Biology Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"Glusman","sequence":"additional","affiliation":[{"name":"Institute for Systems Biology Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheyuan","family":"Zong","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child and Family Research Institute University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Institute for Systems Biology Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Eydoux","sequence":"additional","affiliation":[{"name":"Department of Pathology University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christof","family":"Senger","sequence":"additional","affiliation":[{"name":"Department of Pathology University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Lyons","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared C.","family":"Roach","sequence":"additional","affiliation":[{"name":"Institute for Systems Biology Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Millan","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child and Family Research Institute University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds083"},{"key":"e_1_2_6_3_1","article-title":"Autosomal recessive Adams\u2010Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain\u2010specific O\u2010GlcNAc transferase","author":"Cohen I","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00556.x"},{"key":"e_1_2_6_5_1","unstructured":"Exome Variant Server NHLBI GO Exome Sequencing Project (ESP) 2013"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr540"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.003"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.110.218271"},{"key":"e_1_2_6_10_1","first-page":"57","article-title":"[The Adams\u2010Oliver syndrome in Spain: the epidemiological aspects]","volume":"45","author":"Mart\u00ednez\u2010Fr\u00edas ML","year":"1996","journal-title":"An. Esp. Pediatr"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181723cc8"},{"key":"e_1_2_6_12_1","first-page":"1777","volume-title":"The Metabolic and Molecular Basis of Disease","author":"Mitchell GA","year":"2001"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.2003661"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2006.11.017"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30221"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2012.531"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31192"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/82558"},{"key":"e_1_2_6_19_1","unstructured":"SalvesonR.2011.Expansion of the New York State Newborn Screening Panel and Krabbe Disease: A Systematic Program Evaluation. New York Dissertation Columbia University"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.108.178897"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.012"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01498.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.009"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32708"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202595"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.job.2013.05.002"},{"key":"e_1_2_6_28_1","first-page":"3775","article-title":"\u03b2\u2010Galactosidase deficiency (\u03b2\u2010galactosidosis): GM1 gangliosidosis and Morquio B disease. The metabolic and molecular bases of inherited disease","volume":"2001","author":"Suzuki Y","year":"2001","journal-title":"NY McGraw Hill"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<49::AID-AJMG10>3.0.CO;2-M"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.07-096438"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290204"},{"key":"e_1_2_6_32_1","unstructured":"WengerDavid.2011.Krabbe disease. Gene Reviews. Web sites:http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1238\/"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36685","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36685","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36685","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T16:04:20Z","timestamp":1694707460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,4]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ajmg.a.36685"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36685","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,4]]}}}