Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review
Z Jiang, P Wang - Genes, 2023 - mdpi.com
Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically
heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly …
heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly …
Whole-exome sequencing reveals novel NDP variants in X-linked familial exudative vitreoretinopathy
Y Peng, R Zhao, E Dai, L Peng, Y He… - European Journal of …, 2022 - journals.sagepub.com
Purpose To investigate causative variants in three Chinese families affected with familial
exudative vitreoretinopathy (FEVR). Methods Three unrelated Chinese families were …
exudative vitreoretinopathy (FEVR). Methods Three unrelated Chinese families were …
Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is an inheritable vitreoretinal disease
characterized by incomplete retinal vascular development, which often leads to multiple …
characterized by incomplete retinal vascular development, which often leads to multiple …
Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy
Y Wang, R Zhao, E Dai, L Peng, Y He… - Genetic Testing and …, 2022 - liebertpub.com
Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe
inherited eye disease characterized by abnormal development of the retinal vasculature …
inherited eye disease characterized by abnormal development of the retinal vasculature …