Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation-Reference-Cited by-同舟云学术

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

Published:2020-09-03 Issue:2 Volume:66 Page:193-203
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tananuvat Napaporn,Tananuvat Rak,Chartapisak Wattana,Mahanupab Pongsak,Hokierti Chananya,Srikummool Metawee,Kampuansai Jatupol,Intachai Worrachet,Olsen Bjorn,Ketudat Cairns James R.^ORCID,Kantaputra Piranit

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-020-00834-5.pdf

Reference47 articles.

1. Harboyan G, Mamo J, Kaloustian VD, Karam F. Congenital corneal dystrophy. Progressive sensorineural deafness in a family. Arch Ophthalmol. 1971;85:27–32.

2. Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis. 2008;3:28.

3. Weiss JS, Moller HU, Aldave AJ, Seitz B, Bredrup C, Kivela T, et al. IC3D classification of corneal dystrophies–edition 2. Cornea. 2015;34:117–59.

4. Mehta JS, Hemadevi B, Vithana EN, Arunkumar J, Srinivasan M, Prajna V, et al. Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene. Cornea. 2010;29:302–6.

5. Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17:656–66.

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