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

• Main Authors: Piranit Nik Kantaputra, Dhirawat Jotikasthira, Bruce Carlson, Teerapat Wongmaneerung, Natalina Quarto, Theerapong Khankasikum, Warit Powcharoen, Worrachet Intachai, Kanich Tripuwabhrut
• 格式: 雜誌
• 出版: 2020
• 主題: Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85084203421&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70817

© 2020 Japanese Dermatological Association Trichorhinophalangeal syndrome type 1 (TRPS1; Online Mendelian Inheritance in Man #190350) is an autosomal dominant disorder caused by mutations in TRPS1. We report a Thai male with TRPS1 who carried a c.1842C>T (p.Arg615Ter) mutation. He had 15 supernum...