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...

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Dades bibliogràfiques
Publicat a:PLoS Genet
Autors principals: 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
Idioma:Inglês
Publicat: Public Library of Science 2019
Matèries:
Research Article
Accés en línia: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
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