Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

AIM: To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1). METHODS: The probands of 10 families and 20 affected family members underwent an ophthalmic examination including dilated fundus exam...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Boon, Camiel J F, van Schooneveld, Mary J, den Hollander, Anneke I, van Lith‐Verhoeven, Janneke J C, Zonneveld‐Vrieling, Marijke N, Theelen, Thomas, Cremers, Frans P M, Hoyng, Carel B, Klevering, B Jeroen
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Extended Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2095453/
https://ncbi.nlm.nih.gov/pubmed/17504850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2007.115659
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados