Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation

• Main Authors: Napaporn Tananuvat, Rak Tananuvat, Wattana Chartapisak, Pongsak Mahanupab, Chananya Hokierti, Metawee Srikummool, Jatupol Kampuansai, Worrachet Intachai, Bjorn Olsen, James R. Ketudat Cairns, Piranit Kantaputra
• 格式: 雜誌
• 出版: 2020
• 主題: Biochemistry, Genetics and Molecular Biology; Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85090184485&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70280
• 機構: Chiang Mai University

© 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics. Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A1...