Article
Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.
Clinical genetics - 1 Nov 2012
Su P-H, Liu Y-F, Yu J-S, Chen J-Y, Chen S-J, Lai Y-J
Abstract excerpt
This study explored the role of TCOF1 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 TCOF1 were analyzed by polymerase chain reaction and direct sequencing. Clinical manifestations were correlated to the TCOF1 mutation. Six...
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