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Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
BACKGROUND: To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging. METHODS: The Irish National Registr...
Autores principales: | Stephenson, Kirk, Dockery, Adrian, Wynne, Niamh, Carrigan, Matthew, Kenna, Paul, Jane Farrar, G., Keegan, David |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233547/ https://www.ncbi.nlm.nih.gov/pubmed/30419843 http://dx.doi.org/10.1186/s12881-018-0712-8 |
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