{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:21Z","timestamp":1792782201952,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,8,6]],"date-time":"2015-08-06T00:00:00Z","timestamp":1438819200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare, Japan","id":[{"id":"https:\/\/ror.org\/03mwa7s65","id-type":"ROR","asserted-by":"crossref"}]},{"name":"IRUD grant from Japan Agency for Medical Research and Development","id":[{"id":"https:\/\/ror.org\/004rtk039","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatric Health","id":[{"id":"https:\/\/ror.org\/0514nj725","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Keio University Research Grants for Life Science and Medicine","id":[{"id":"https:\/\/ror.org\/02kn6nx58","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Japan Foundation for Pediatric Research","award":["No14-002"],"award-info":[{"award-number":["No14-002"]}],"id":[{"id":"https:\/\/ror.org\/02n1qj055","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The combinatory phenotype of thrombocytopenia and developmental delay has been described for two genetic conditions: a chromosome 11q deletion that is referred to as Jacobsen syndrome, and a 21q22 microdeletion syndrome. Herein, we report a young girl who presented with persistent macrothrombocytopenia and a developmental delay. Whole exome sequencing revealed a\n                      <jats:italic>de novo<\/jats:italic>\n                      amino acid substitution in CDC42, a critical regulator of the cytoskeleton. Our observation recapitulates observations in mice lacking\n                      <jats:italic>Cdc42<\/jats:italic>\n                      . We suggest that this\n                      <jats:italic>CDC42<\/jats:italic>\n                      mutation may represent yet another mechanism leading to the combinatory phenotype of persistent macrothrombocytopenia and developmental delay. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37275","type":"journal-article","created":{"date-parts":[[2015,9,19]],"date-time":"2015-09-19T12:34:08Z","timestamp":1442666048000},"page":"2822-2825","source":"Crossref","is-referenced-by-count":105,"title":["Macrothrombocytopenia and developmental delay with a\n                    <i>de novo CDC42<\/i>\n                    mutation: Yet another locus for thrombocytopenia and developmental delay"],"prefix":"10.1002","volume":"167","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"},{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Niizuma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Rinkai Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichiro","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Center for Child Health and Development 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":[[2015,8,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/20726"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1744"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.035014"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33228"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33151"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80670-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35368"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00876.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.17.9648"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0109"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90370-4"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7652575"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-242271"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/13793"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81050-8"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.10.015"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200407076"}],"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.37275","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:58:27Z","timestamp":1696611507000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,6]]},"references-count":19,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37275"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37275","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,6]]}}}