Cell-specific roles for CASK in the pathology of Optic Nerve Hypoplasia
Optic Nerve Hypoplasia (ONH) is the leading cause of childhood blindness in developed nations and its prevalence has been rising. Yet, we know little about the genetic, molecular, or cellular mechanisms underlying ONH. A previous study described ONH in a cohort of patients with mutations in CASK, a...
Main Author: | Kerr, Alicia Marie |
---|---|
Other Authors: | Graduate School |
Format: | Others |
Published: |
Virginia Tech
2020
|
Subjects: | |
Online Access: | http://hdl.handle.net/10919/101514 |
Similar Items
-
Mechanism of CASK-linked ophthalmological disorders
by: Liang, Chen
Published: (2018) -
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
by: Burglen Lydie, et al.
Published: (2012-03-01) -
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence
by: Konark Mukherjee, et al.
Published: (2020-10-01) -
Optic nerve hypoplasia
by: Savleen Kaur, et al.
Published: (2013-01-01) -
Optic Nerve Hypoplasia: A Retrospective Analysis of Clinical Presentation and Disease Severity
by: Netzel AN, et al.
Published: (2019-12-01)