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...
Saved in:
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: | |
Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85090184485&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70280 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
Similar Items
-
Split hand-foot malformation and a novel WNT10B mutation
by: Piranit Nik Kantaputra, et al.
Published: (2018) -
Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation
by: Piranit Nik Kantaputra, et al.
Published: (2018) -
Effect of pterygium on corneal topography and
astigmatism
by: Sudarat Lornanthakul, et al.
Published: (2019) -
All enamel is not created equal: Supports from a novel FAM83H mutation
by: Piranit Nik Kantaputra, et al.
Published: (2018) -
Corneal thickness and endothelial morphology in Normal Thai eyes
by: Napaporn Tananuvat, et al.
Published: (2020)