Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis

CONCLUSION: This study reported the mutation frequency of the LTBP2 gene in a Chinese CEL cohort and provided novel insight into LTBP2-related genotype-phenotype associations in CEL.PMID:38222456 | PMC:PMC10784221

Source: Molecular Vision - January 15, 2024 Category: Molecular Biology Authors: Liyan Liu Dongwei Guo Fengmei Yang Haotian Qi Yijing Zhou Danying Zheng Guangming Jin Source Type: research