Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Abstract 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...

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Principais autores: Kirk Stephenson (Autor), Adrian Dockery (Autor), Niamh Wynne (Autor), Matthew Carrigan (Autor), Paul Kenna (Autor), G. Jane Farrar (Autor), David Keegan (Autor)
Formato: Livro
Publicado em: BMC, 2018-11-01T00:00:00Z.
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3rd Floor Main Library

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