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Novel Phenotypic and Genotypic Findings in X-Linked Retinoschisis

OBJECTIVE: To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1). METHODS: Seven patients with multiple fine white dots at the macula and reduced visual acuity were evaluated. Six patients underwent pattern and full-field electroretinography (ERG). O...

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Autori principali: Tsang, Stephen H., Vaclavik, Veronika, Bird, Alan C., Robson, Anthony G., Holder, Graham E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2757628/
https://ncbi.nlm.nih.gov/pubmed/17296904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archopht.125.2.259
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