Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma

by Piranit Kantaputra, Worrachet Intachai, Katsushige Kawasaki, Atsushi Ohazama, Bruce Carlson, Natalina Quarto, Chulabhorn Pruksachatkun, Mati Chuamanochan
Published 2020

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

by Piranit Nik Kantaputra, Kanich Tripuwabhrut, Worrachet Intachai, Bruce M. Carlson, Natalina Quarto, Chumpol Ngamphiw, Sissades Tongsima, Nuntigar Sonsuwan
Published 2020

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morpho...

by Piranit Nik Kantaputra, Dhirawat Jotikasthira, Bruce Carlson, Teerapat Wongmaneerung, Natalina Quarto, Theerapong Khankasikum, Warit Powcharoen, Worrachet Intachai, Kanich Tripuwabhrut
Published 2020