Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation

by Napaporn Tananuvat, Rak Tananuvat, Wattana Chartapisak, Pongsak Mahanupab, Chananya Hokierti, Metawee Srikummool, Jatupol Kampuansai, Worrachet Intachai, Bjorn Olsen, James R. Ketudat Cairns, Piranit Kantaputra
Published 2020

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

by Piranit Nik Kantaputra, Prapai Dejkhamron, Sissades Tongsima, Chumpol Ngamphiw, Worrachet Intachai, Lukana Ngiwsara, Phannee Sawangareetrakul, Jisnuson Svasti, Bjorn Olsen, James R.Ketudat Cairns, Kanokkan Bumroongkit
Published 2020

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome

by Piranit 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
Published 2022