{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T06:50:27Z","timestamp":1789714227184,"version":"4.0.1"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra\u2010cranial features. Linkage analysis and genome sequencing were performed to identify the underlying genetic mutation. A c.443C&gt;T missense mutation in\n                      <jats:italic>MSX2<\/jats:italic>\n                      , which predicts p.Pro148Leu was identified and segregated with the disease in all affected family members. One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in\n                      <jats:italic>MSX2<\/jats:italic>\n                      . These data confirm that missense mutations altering the proline at codon 148 of\n                      <jats:italic>MSX2<\/jats:italic>\n                      cause dominantly inherited craniosynostosis. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36126","type":"journal-article","created":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T23:31:28Z","timestamp":1376609488000},"page":"2626-2633","source":"Crossref","is-referenced-by-count":30,"title":["Boston type craniosynostosis: Report of a second mutation in\n                    <i>MSX2<\/i>"],"prefix":"10.1002","volume":"161","author":[{"given":"Joyce M.G.","family":"Florisson","sequence":"first","affiliation":[{"name":"Department of Plastic, Reconstructive and Hand Surgery Dutch Craniofacial Centre, Erasmus Medical Centre Sophia Children's Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke J.M.H.","family":"Verkerk","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Huigh","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Jeannette M.","family":"Hoogeboom","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Swagemakers","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kremer","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Heijsman","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC, University Medical Centre Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten 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