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Issue DateTitleAuthor(s)
1-Jan-2020Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantationNapaporn Tananuvat; Rak Tananuvat; Wattana Chartapisak; Pongsak Mahanupab; Chananya Hokierti; Metawee Srikummool; Jatupol Kampuansai; Worrachet Intachai; Bjorn Olsen; James R. Ketudat Cairns; Piranit Kantaputra
1-Nov-2020Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2Piranit Nik Kantaputra; Prapai Dejkhamron; Sissades Tongsima; Chumpol Ngamphiw; Worrachet Intachai; Lukana Ngiwsara; Phannee Sawangareetrakul; Jisnuson Svasti; Bjorn Olsen; James R.Ketudat Cairns; Kanokkan Bumroongkit
1-Feb-2022Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutationPiranit Nik Kantaputra; Nutsuchar Wangtiraumnuay; Chumpol Ngamphiw; Bjorn Olsen; Worrachet Intachai; Abigail S. Tucker; Sissades Tongsima
1-Jan-2022Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndromePiranit Kantaputra; Yeliz Guven; Tugba Kalayci; Pelin Karaca Özer; Wannakamon Panyarak; Worrachet Intachai; Bjorn Olsen; Bruce M. Carlson; Oranud Praditsap; Sissades Tongsima; Chumpol Ngamphiw; Peeranat Jatooratthawichot; Abigail S. Tucker; James R. Ketudat Cairns
1-Oct-2022Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomaliesPiranit Kantaputra; Peeranat Jatooratthawichot; Kanoknart Chintakanon; Worrachet Intachai; Prapat Pradermdutsadeeporn; Ploy Adisornkanj; Sissades Tongsima; Chumpol Ngamphiw; Bjorn Olsen; Abigail S. Tucker; James R. Ketudat Cairns
1-Oct-2022Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostosesPiranit Nik Kantaputra; Yeliz Guven; Kanich Tripuwabhrut; Ploy Adisornkanj; Athiwat Hatsadaloi; Massupa Kaewgahya; Bjorn Olsen; Chumpol Ngamphiw; Peeranat Jatooratthawichot; Sissades Tongsima; James R. Ketudat Cairns