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Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
PURPOSE: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic cause of nanophthalmos and high hyperopia in an autosomal dominant kindred. METHODS: A proband with short axial length, high hyperopi...
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| Publicado no: | Mol Vis |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6817736/ https://ncbi.nlm.nih.gov/pubmed/31700225 |
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