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

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

© 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...

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Bibliographic Details
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
Format: Journal
Published: 2020
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85090184485&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/70280
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Institution: Chiang Mai University

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http://cmuir.cmu.ac.th/jspui/handle/6653943832/70280

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