Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817736/ https://www.ncbi.nlm.nih.gov/pubmed/31700225 |