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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ophthalmic Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Article
Mynediad Ar-lein: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
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