{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T06:53:58Z","timestamp":1750834438828,"version":"3.37.3"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T00:00:00Z","timestamp":1444694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Center of Excellence in Medical Genetics Research"},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund (TRF)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Faculty of Dentistry, Chiang Mai University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report two novel heterozygous missense <jats:italic>MSX1<\/jats:italic> mutations in two Thai families (c.739C&gt;T; p.Pro247Ser and c.607G&gt;A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip and palate, hypodontia, and microdontia. The p.Pro247Ser mutation was found in a three\u2010generation Thai family and was associated with bilateral cleft lip and palate, hypodontia, microdontia, and dens invaginatus. The proband also had preaxial polydactyly of the left hand. The role of <jats:italic>Msx1<\/jats:italic> in limb development in mice is discussed. Intrafamilial variability of the phenotypes is clearly evident. This is the first time that a limb anomaly has been reported to be associated with a mutation in <jats:italic>MSX1<\/jats:italic>. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37417","type":"journal-article","created":{"date-parts":[[2015,10,14]],"date-time":"2015-10-14T03:38:12Z","timestamp":1444793892000},"page":"254-259","source":"Crossref","is-referenced-by-count":4,"title":["Preaxial polydactyly associated with a <i>MSX1<\/i> mutation and report of two novel mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Onnida","family":"Wattanarat","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piranit Nik","family":"Kantaputra","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University Chiang Mai Thailand"},{"name":"DENTALAND CLINIC Chiang Mai 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