Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

• Main Authors: Piranit Nik Kantaputra, Kanich Tripuwabhrut, Worrachet Intachai, Bruce M. Carlson, Natalina Quarto, Chumpol Ngamphiw, Sissades Tongsima, Nuntigar Sonsuwan
• Format: Journal
• Published: 2020
• Subjects: Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85085558465&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70780
• Institution: Chiang Mai University

© 2020 John Wiley & Sons Ltd Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. Objective: To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thai...