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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019 05; 15(5):e1008130.
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PubMed
subject areas
Adult
Adult
Animals
Animals
Child
Child
Child, Preschool
Child, Preschool
Exons
Exons
Family
Family
Female
Female
Frameshift Mutation
Frameshift Mutation
Genetic Variation
Genetic Variation
Glaucoma, Angle-Closure
Glaucoma, Angle-Closure
Humans
Humans
Hyperopia
Hyperopia
Male
Male
Membrane Proteins
Membrane Proteins
Mice
Mice
Mice, Inbred C57BL
Mice, Inbred C57BL
Mice, Knockout
Mice, Knockout
Microphthalmos
Microphthalmos
Middle Aged
Middle Aged
Pedigree
Pedigree
Refractive Errors
Refractive Errors
Retinal Degeneration
Retinal Degeneration
RNA Splice Sites
RNA Splice Sites
Transcription Factors
Transcription Factors
authors with profiles
Gregory L Skuta