Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

BACKGROUND: 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 develo...

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Vydáno v:PLoS One
Hlavní autoři: Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Iqbal, Aftab, Khan, Muhammad Imran, den Hollander, Anneke I.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2016
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4943665/
https://ncbi.nlm.nih.gov/pubmed/27409795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0159259
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