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...

Descripción completa

Detalles Bibliográficos
Autores principales: Siggs, Owen M., Souzeau, Emmanuelle, Breen, James, Qassim, Ayub, Zhou, Tiger, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817736/
https://www.ncbi.nlm.nih.gov/pubmed/31700225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817736/
https://www.ncbi.nlm.nih.gov/pubmed/31700225

Ejemplares similares