Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Author:

Garnai Sarah J.ORCID,Brinkmeier Michelle L.,Emery Ben,Aleman Tomas S.,Pyle Louise C.ORCID,Veleva-Rotse BilianaORCID,Sisk Robert A.,Rozsa Frank W.,Ozel Ayse Bilge,Li Jun Z.,Moroi Sayoko E.,Archer Steven M.ORCID,Lin Cheng-maoORCID,Sheskey SarahORCID,Wiinikka-Buesser Laurel,Eadie James,Urquhart Jill E.,Black Graeme C.M.,Othman Mohammad I.,Boehnke MichaelORCID,Sullivan Scot A.,Skuta Gregory L.,Pawar Hemant S.,Katz Alexander E.ORCID,Huryn Laryssa A.,Hufnagel Robert B.,Camper Sally A.ORCID,Richards Julia E.,Prasov LevORCID,

Funder

Knights Templar Eye Foundation

Research to Prevent Blindness

National Eye Institute

National Center for Advancing Translational Sciences

Race to Erase MS

RP Fighting Blindness

Fight for Sight UK

National Institutes of Health

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference103 articles.

1. Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis;SR Flaxman;Lancet Glob Health,2017

2. The small eye phenotype in the EPIC-Norfolk eye study: prevalence and visual impairment in microphthalmos and nanophthalmos;AC Day;BMJ Open,2013

3. Cataract surgery in the small eye;RS Hoffman;J Cataract Refract Surg,2015

4. Nanophthalmos: A Review of the Clinical Spectrum and Genetics;PC Carricondo;J Ophthalmol,2018

5. Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?;M Hendriks;Am J Ophthalmol,2017

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