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

Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2019
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6527243/
https://ncbi.nlm.nih.gov/pubmed/31048900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008130
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires