{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:24:40Z","timestamp":1777523080010,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T00:00:00Z","timestamp":1558569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>Little is currently known about the mechanisms by which pathogenic variants of FGFR2 produce changes in the FGFR protein and influence the clinical presentation of affected individuals. We report on a patient with a de novo pathogenic variant of FGFR2 and a phenotype consistent with Jackson-Weiss syndrome who presented with delayed, rapidly progressive multisutural craniosynostosis and associated medical complications. Using 3-dimensional modeling of the FGFR protein, we provide evidence that this variant resulted in abnormal dimerization and constitutive activation of FGFR, leading to the Jackson-Weiss phenotype. Knowledge regarding the correlation between genotype and phenotype of persons with FGFR2-related craniosynostosis has the potential to allow for anticipation of medical complications, institution of early treatment, and improved clinical outcomes.<\/jats:p>","DOI":"10.1177\/1055665619851642","type":"journal-article","created":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T00:44:40Z","timestamp":1558658680000},"page":"1386-1392","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo\n                    <i>FGFR2<\/i>\n                    Pathogenic Variant"],"prefix":"10.1177","volume":"56","author":[{"given":"Karel-Bart","family":"Celie","sequence":"first","affiliation":[{"name":"Division of Plastic Surgery, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5097-110X","authenticated-orcid":false,"given":"Melissa","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Cunniff","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jarrod","family":"Bogue","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, New York Presbyterian Hospital, Columbia University Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Imahiyerobo","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, New York Presbyterian Hospital, Columbia University Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,5,23]]},"reference":[{"key":"bibr1-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv374"},{"key":"bibr2-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1271"},{"key":"bibr3-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1097\/GOX.0000000000001613"},{"key":"bibr4-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37640"},{"key":"bibr5-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)81050-5"},{"key":"bibr6-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000001472"},{"key":"bibr7-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.0.CO;2-M"},{"key":"bibr8-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.26"},{"key":"bibr9-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"bibr10-1055665619851642","unstructured":"Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes [Internet]. In: Adam MP, Ardinger HH, Pagon RA, Bean LJ, Wallace SE, Stephens K, Amemiya A, eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 2011. Retrieved from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1455\/. Accessed August 27, 2018."},{"key":"bibr11-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000003586"},{"key":"bibr12-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10262"},{"key":"bibr13-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2016.08.026"},{"key":"bibr14-1055665619851642","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050584"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665619851642","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1055665619851642","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665619851642","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:19:36Z","timestamp":1777393176000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1055665619851642"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,23]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1177\/1055665619851642"],"URL":"https:\/\/doi.org\/10.1177\/1055665619851642","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,23]]}}}