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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2019
Pynciau:
Research Article
Mynediad Ar-lein: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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