{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:57:37Z","timestamp":1790632657693,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,28]],"date-time":"2016-09-28T00:00:00Z","timestamp":1475020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007786","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":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed <jats:italic>FGFR1\u20103<\/jats:italic> genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS\u20102), one patient with Jackson\u2013Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). <jats:italic>FGFR2<\/jats:italic> and <jats:italic>FGFR3<\/jats:italic> mutations were identified in 10 of the 11 patients. Notably, we found a novel <jats:italic>FGFR2<\/jats:italic> p.Asn549Thr mutation in a patient with CS, and a novel <jats:italic>FGFR2<\/jats:italic> p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an <jats:italic>FGFR2<\/jats:italic>\u2010related PS\u2010variant). We also identified an <jats:italic>FGFR2<\/jats:italic> p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an <jats:italic>FGFR3<\/jats:italic> p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. These findings, together with previous data, imply that the same <jats:italic>FGFR2<\/jats:italic> mutations can be associated with a wide range of phenotypes including clinically different forms of syndromic craniosynostosis and apparently normal phenotype, depending on other (epi)genetic and environmental factors. Thus, genetic studies are recommended not only for obviously affected individuals but also for family members with apparently normal phenotype or non\u2010specific subtle abnormal phenotype, to allow for pertinent genetic counseling. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37992","type":"journal-article","created":{"date-parts":[[2016,9,28]],"date-time":"2016-09-28T13:50:06Z","timestamp":1475070606000},"page":"157-162","source":"Crossref","is-referenced-by-count":10,"title":["Mutation analysis of <i>FGFR1\u20103<\/i> in 11 Japanese patients with syndromic craniosynostoses"],"prefix":"10.1002","volume":"173","author":[{"given":"Akira","family":"Ohishi","sequence":"first","affiliation":[{"name":"Department of Regional Neonatal\u2010Perinatal Medicine Hamamatsu University School of Medicine Hamamatsu Japan"},{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Tokyo Metropolitan Children's Medical Center Fuchu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumiko","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Maruwaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagoya Daini Red Cross Hospital Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mako","family":"Ago","sequence":"additional","affiliation":[{"name":"Department of Neonatology Tokyo Women's Medical University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Suzumura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University School of Medicine Tochigi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etsuko","family":"Hirose","sequence":"additional","affiliation":[{"name":"Department of Neonatology Seirei\u2010Hamamatsu General Hospital Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Uchida","sequence":"additional","affiliation":[{"name":"Department of Plastic Reconstructive and Anesthetic Surgery Chiba University School of Medicine Chiba 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