Cargando…
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
BACKGROUND: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal genetic testing and ultrasound in the diagnosis and coun...
Autores principales: | Liu, Jingjing, Zhu, Jing, Yang, Jiyun, Zhang, Xiang, Zhang, Qi, Zhao, Peiquan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382493/ https://www.ncbi.nlm.nih.gov/pubmed/30474316 http://dx.doi.org/10.1002/mgg3.503 |
Ejemplares similares
-
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
por: Jia, Li-Yun, et al.
Publicado: (2021) -
INTRAVITREAL RANIBIZUMAB TREATMENT FOR ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH HIGH VASCULAR ACTIVITY
por: Lyu, Jiao, et al.
Publicado: (2021) -
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy
por: Fei, Ping, et al.
Publicado: (2014) -
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
por: Xu, Yu, et al.
Publicado: (2014) -
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy
por: Tian, Tian, et al.
Publicado: (2019)