Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
Primary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and...
Main Authors: | Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I den Hollander |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2016-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4943665?pdf=render |
Similar Items
-
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
by: Shazia Micheal, et al.
Published: (2016-01-01) -
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
by: Shazia Micheal, et al.
Published: (2018-02-01) -
Effects of Artisan aphakic intraocular lens on central corneal thickness and intra ocular pressure in pediatric eyes with crystalline subluxated lenses
by: Saemah Nuzhat Zafar, et al.
Published: (2013-01-01) -
Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.
by: Shazia Micheal, et al.
Published: (2015-01-01) -
A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus).
by: Markus H Kuehn, et al.
Published: (2016-01-01)