WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts

• Main Authors: Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Pannee Visrutaratna, Sasitorn Petcharunpaisan, Bruce M. Carlson, Worrachet Intachai, Jutamas Sudasna, Jatupol Kampuansai, Prapai Dejkhamron
• Format: Journal
• Published: 2019
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85060775236&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/63570
• Institution: Chiang Mai University

© 2019, The Author(s) under exclusive licence to The Japan Society of Human Genetics. A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility t...