Cargando…
Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by abnormalities in the retinal vasculature. The FZD4 gene is associated with FEVR, but the prevalence and impact of FZD4 copy number variation (CNV) on FEVR patients are unknown. The aim of this study was to better u...
Autores principales: | Huang, Li, Lu, Jinglin, Zhang, Linyan, Zhang, Zhaotian, Sun, Limei, Li, Songshan, Zhang, Ting, Chen, Limei, Cao, Liming, Ding, Xiaoyan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306649/ https://www.ncbi.nlm.nih.gov/pubmed/34199009 http://dx.doi.org/10.3390/genes12070980 |
Ejemplares similares
-
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations
por: Lu, Jinglin, et al.
Publicado: (2022) -
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations
por: Huang, Li, et al.
Publicado: (2023) -
Novel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy
por: Tang, Miao, et al.
Publicado: (2016) -
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012) -
CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis
por: Yang, Mu, et al.
Publicado: (2022)