{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:27Z","timestamp":1791041907053,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,26]],"date-time":"2017-06-26T00:00:00Z","timestamp":1498435200000},"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"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","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":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS\/mitogen\u2010activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio\u2010facio\u2010cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan\u2010like syndrome, hereditary gingival fibromatosis, and capillary malformation\/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving <jats:italic>KRAS<\/jats:italic> mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a <jats:italic>SHOC2<\/jats:italic> mutation has also been reported. Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in <jats:italic>PTPN11<\/jats:italic> and patients with craniosynostosis and CFC syndrome due to de novo mutations in <jats:italic>BRAF<\/jats:italic> or <jats:italic>KRAS<\/jats:italic>. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. In RASopathy, patients with cranial deformities, further assessments may be necessary to look for craniosynostosis. Future studies should attempt to elucidate the pathogenic mechanism responsible for craniosynostosis mediated by the RAS\/MAPK signaling pathway.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38337","type":"journal-article","created":{"date-parts":[[2017,6,26]],"date-time":"2017-06-26T15:04:33Z","timestamp":1498489473000},"page":"2346-2352","source":"Crossref","is-referenced-by-count":45,"title":["Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7032-4754","authenticated-orcid":false,"given":"Kimiko","family":"Ueda","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Osaka Women's and Children's Hospital Osaka Prefectural Hospital Organization Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masako","family":"Yaoita","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Niihori","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Osaka Women's and Children's Hospital Osaka Prefectural Hospital Organization Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,6,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37259"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.114"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35270"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000132854.14237.A8"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00389.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-012-2017-0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu376"},{"key":"e_1_2_7_10_1","first-page":"172","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones K. 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