SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa

BACKGROUND: SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail. MATERIALS AND METHODS: A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and st...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Ophthalmic Genet
Hoofdauteurs: Matsui, Rodrigo, McGuigan, David B., Gruzensky, Michaela L., Aleman, Tomas S., Schwartz, Sharon B., Sumaroka, Alexander, Koenekoop, Robert K., Cideciyan, Artur V., Jacobson, Samuel G.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4988809/
https://ncbi.nlm.nih.gov/pubmed/26854980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2015.1130154
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items