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Issue DateTitleAuthor(s)
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-Aug-2020Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutationPiranit Nik Kantaputra; Stephanie A. Coury; Wen Hann Tan
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-Aug-2022Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic VariantsLeila Cabral de Almeida Cardoso; Alejandro Parra; Cristina Ríos Gil; Pedro Arias; Natalia Gallego; Valeria Romanelli; Piranit Nik Kantaputra; Leonardo Lima; Juan Clinton Llerena Júnior; Claudia Arberas; Encarna Guillén-Navarro; Julián Nevado; Jair Tenorio-Castano; Pablo Lapunzina
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

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