Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation

• المؤلفون الرئيسيون: Piranit Nik Kantaputra, Stephanie A. Coury, Wen Hann Tan
• التنسيق: دورية
• منشور في: 2020
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Dentistry; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85084731101&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70197
• المؤسسة: Chiang Mai University

© 2020 Elsevier Ltd Tricho-rhino-phalangeal syndrome type I, an autosomal dominant condition, is caused by heterozygous pathogenic variants in a zinc finger transcription factor, TRPS1, which has important roles in development of endochondral bones, teeth, and hair. Clinical manifestations of the pa...