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NDP-related retinopathies: clinical phenotype of female carriers

BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characterist...

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Detalles Bibliográficos
Autores principales: Huang, Li, Sun, Limei, Li, Xiaoyu, Li, Songshan, Zhang, Ting, Zhang, Zhaotian, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359507/
https://www.ncbi.nlm.nih.gov/pubmed/35361573
http://dx.doi.org/10.1136/bjophthalmol-2021-320084