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Polymorphisms in PTCH1 Affect the Risk of Ameloblastoma

T. Kawabata1, K. Takahashi1,*, M. Sugai2, A. Murashima-Suginami1, S. Ando1, A. Shimizu2, S. Kosugi3, T. Sato4, M. Nishida1, K. Murakami1, and T. Iizuka1

1 Kyoto University Graduate School of Medicine, Department of Oral and Maxillofacial Surgery,
2 Department of Clinical Genetics Unit,
3 Department of Biomedical Ethics, and
4 Department of Biostatistics, Graduate School of Medicine, Kyoto University, Syogoin-Kawahara-cho, Sakyou-ku, Kyoto 606-8501, Japan;



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Figure. CTNNB1 mutation in plexiform-type ameloblastoma. (A) Sequence of exon 3 of CTNNB1 in case 3. Codon 33 was affected in 1 allele. Alteration from TCT to TGT caused an amino acid substitution from serine to cysteine at the glycogen synthase kinase-3ß (GSK3-ß)-phosphorylation site of CTNNB1. (B) Histological features of case 3. This case shows typical plexiform-type ameloblastoma characterized by interdigitating cords of epithelial cells and scant stellate reticulum. Original magnification: x100. Scale bar: 100 µm.

 





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