{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T19:52:33Z","timestamp":1760385153292},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,9,7]],"date-time":"2011-09-07T00:00:00Z","timestamp":1315353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:p>Su P\u2010H, Liu Y\u2010F, Yu J\u2010S, Chen J\u2010Y, Chen S\u2010J, Lai Y\u2010J. Facial asymmetry and clinical manifestations in patients with novel insertion of the<jats:italic>TCOF1<\/jats:italic>gene.<\/jats:p><jats:p>This study explored the role of<jats:italic>TCOF1<\/jats:italic>insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of<jats:italic>TCOF1<\/jats:italic>were analyzed by polymerase chain reaction and direct sequencing. Clinical manifestations were correlated to the<jats:italic>TCOF1<\/jats:italic>mutation. Six of 12 patients diagnosed with hemifacialmicrosomia exhibited a novel insertion mutation 4127 ins G (frameshift) in exon 24 in the<jats:italic>TCOF1<\/jats:italic>gene. All six patients were diagnosed with anomalies on the left side. In addition, four of these six patients had hearing impairment; three had other major anomalies; and two had developmental delay. The insertion caused a frameshift, an early truncation, the loss of two putative nuclear localization signals (residues 1404\u20131420 and 1424\u20131440), and the loss of coiled coil domain (1406\u20131426) in treacle protein. These findings support the existence of two regulators of growth of the mandibular condyles.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01765.x","type":"journal-article","created":{"date-parts":[[2011,8,17]],"date-time":"2011-08-17T21:02:32Z","timestamp":1313614952000},"page":"460-465","source":"Crossref","is-referenced-by-count":7,"title":["Facial asymmetry and clinical manifestations in patients with novel insertion of 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