Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Type
Article
Authors
Khan, Arif O.
Patel, Nisha
Ghazi, Nicola G.
Alzahrani, Shahad S.
Arold, Stefan T. cc
Alkuraya, Fowzan S.
KAUST Department
Biological and Environmental Sciences and Engineering (BESE) Division
Bioscience Program
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Date
2018-08
Online Publication Date
2018-08
Print Publication Date
2018-09-03
Permanent link to this record
http://hdl.handle.net/10754/630441

Metadata
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Abstract
The purpose of this study is to uncover the genetic cause for non-syndromic macular
Citation
Khan AO, Patel N, Ghazi NG, Alzahrani SS, Arold ST, et al. (2018) Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. Ophthalmic Genetics 39: 577–583. Available: http://dx.doi.org/10.1080/13816810.2018.1498528.
Sponsors
This work was funded by the Saudi Human Genome Program, KACST, and in part by grants from KSCDR (FSA) and KAUST (STA, MAA).
Publisher
Informa UK Limited
Journal
Ophthalmic Genetics
DOI
10.1080/13816810.2018.1498528
Additional Links
https://www.tandfonline.com/doi/abs/10.1080/13816810.2018.1498528
Collections
Articles; Biological and Environmental Sciences and Engineering (BESE) Division; Bioscience Program; Computational Bioscience Research Center (CBRC); Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division