{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T09:29:43Z","timestamp":1793179783492,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,12,28]],"date-time":"2015-12-28T00:00:00Z","timestamp":1451260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>We previously documented a girl with macrothrombocytopenia and developmental delay who carried a de novo mutation in <jats:italic>CDC42<\/jats:italic>, which plays pivotal roles in the cell cycle and the formation of the actin cytoskeleton. The phenotype of mice lacking <jats:italic>Cdc42<\/jats:italic> was strikingly similar to that of the reported patient, indicating that the mutation in <jats:italic>CDC42<\/jats:italic> causes a new syndromic form of thrombocytopenia. We, herein, report another unrelated female patient with a similar phenotype and a de novo mutation in the same <jats:italic>CDC42<\/jats:italic>. The present observation provides further evidence supporting the notion that a mutation in <jats:italic>CDC42<\/jats:italic> causes a recognizable syndromic form of thrombocytopenia. The cardinal features of this entity include macrothrombocytopenia, developmental delay, lymphedema in the lower extremities, camptodactyly, and distinctive facial features. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37526","type":"journal-article","created":{"date-parts":[[2015,12,28]],"date-time":"2015-12-28T11:32:43Z","timestamp":1451302363000},"page":"852-855","source":"Crossref","is-referenced-by-count":71,"title":["Further evidence of a mutation in <i>CDC42<\/i> as a cause of a recognizable syndromic form of thrombocytopenia"],"prefix":"10.1002","volume":"170","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinobu","family":"Ida","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Endocrinology Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1744"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.035014"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13127"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90370-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13238-012-2098-2"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-242271"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37275"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307021200"},{"key":"e_1_2_6_10_1","first-page":"71","volume-title":"Biochemistry","author":"Voet D","year":"2010"}],"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.37526","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37526","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T19:28:28Z","timestamp":1694287708000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,28]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["10.1002\/ajmg.a.37526"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37526","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,28]]}}}