A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

PURPOSE: The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen. METHODS: Ophthalmological examinations consisted of measuring the best-corrected visual acuity and the refractive error, elect...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3472923/
https://ncbi.nlm.nih.gov/pubmed/23077403
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados