Work

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys)

Year: 2025

Type: article

Source: Ophthalmology Glaucoma

DOI: 10.1016/j.ogla.2025.08.003

Authors: Brian P. Young, Angela W. Nyunt, Molly A. Clymer, Mallory R. Tollefson, Ben R. Roos, Michael J. Schnieders, Alan L. Robin, John H. Fingert

Institutions: University of Iowa, Johns Hopkins University, University of Michigan, Johns Hopkins Medicine

Language: English

Topic: Glaucoma and retinal disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Science Foundation, Simons Foundation, Research to Prevent Blindness, University of Iowa, National Institutes of Health, National Eye Institute, National Institute on Deafness and Other Communication Disorders

Awards: G1072776506, G1413950352, G3672746606, G4960126291, CAREER: Chemical Theory for the Protein Crystal Folding Problem, Optimizing Genetic Testing for Deafness for Clinical Diagnostics, Genetic Factors for Glaucoma in the OHTS; Risk, Progression and Mechanism

OpenAlex ID: W4413972331

FWCI:

Cites: 48

Cited by:

Related to: 10