{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T20:13:57Z","timestamp":1772050437999,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T00:00:00Z","timestamp":1640649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in <jats:italic>HRAS<\/jats:italic>. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.62620","type":"journal-article","created":{"date-parts":[[2021,12,29]],"date-time":"2021-12-29T06:42:02Z","timestamp":1640760122000},"page":"1280-1286","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Craniosynostosis is a feature of Costello syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3991-135X","authenticated-orcid":false,"given":"K. Nicole","family":"Weaver","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics College of Medicine, University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marguerite","family":"Care","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of Medicine, University of Cincinnati  Cincinnati Ohio USA"},{"name":"Department of Radiology  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Wakefield","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-6200","authenticated-orcid":false,"given":"Yuri A.","family":"Zarate","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse","family":"Skoch","sequence":"additional","affiliation":[{"name":"Department of Surgery University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, A.I. DuPont Hospital for Children\/Nemours  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics College of Medicine, University of Cincinnati  Cincinnati Ohio USA"},{"name":"Division of Genetics Birth Defects, and Metabolism, Ann and Robert Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37259"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38070"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35270"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/1971400915592549"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ocr.12144"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00389.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GOX.0000000000002090"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0609157103"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37781"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33391"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61270"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32786"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0858-z"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13329"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3171\/2019.7.PEDS18585"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61203"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e318220396e"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2096"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00232"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36705"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw191"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38337"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000542"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00894.x"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813492384"}],"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.62620","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62620","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62620","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T16:24:53Z","timestamp":1693153493000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,28]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/ajmg.a.62620"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62620","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,28]]},"assertion":[{"value":"2021-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}