Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy

Conclusion
Our findings reinforced the current pathogenesis of Norrin/β-catenin for FEVR and expanded the causative variant spectrum of CTNNB1 for the prenatal diagnosis and genetic counselling of FEVR.

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: He, Y., Yang, M., Zhao, R., Peng, L., Dai, E., Huang, L., Zhao, P., Li, S., Yang, Z. Tags: Genotype-phenotype correlations Source Type: research