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...

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Detalles Bibliográficos
Autores principales: Stephenson, Kirk, Dockery, Adrian, Wynne, Niamh, Carrigan, Matthew, Kenna, Paul, Jane Farrar, G., Keegan, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
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

Internet

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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