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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Research Article
Acesso em linha: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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