A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in FEVR subjects within a set of FEV...

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Bibliographic Details
Main Authors: Amanda Petrelli Cicerone, Wendy Dailey, Michael Sun, Andrew Santos, Daeun Jeong, Lance Jones, Konstaninos Koustas, Mary Drekh, Keaton Schmitz, Naomi Haque, Jennifer A. Felisky, Alvaro E. Guzman, Kendra Mellert, Michael T. Trese, Antonio Capone, Kimberly A. Drenser, Kenneth P. Mitton
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
FEVR
retinal disease
pediatric
inherited retinal disease
DNA sequencing
targeted sequencing
Online Access:https://www.mdpi.com/2073-4425/13/3/495

Internet

https://www.mdpi.com/2073-4425/13/3/495

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