A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female...

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Detalles Bibliográficos
Autores principales: Kirkby, Jennifer, Halford, Stephanie, Shanks, Morag, Moore, Anthony, Gait, Anthony, Jenkins, Lucy, Clouston, Penny, Patel, Chetan K., Downes, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298380/
https://www.ncbi.nlm.nih.gov/pubmed/37372373
http://dx.doi.org/10.3390/genes14061193

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298380/
https://www.ncbi.nlm.nih.gov/pubmed/37372373
http://dx.doi.org/10.3390/genes14061193

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