Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients
Dongwei Guo, Guangming Jin, Yijing Zhou, Xinyu Zhang, Qianzhong Cao, Zhangkai Lian, Yibin Guo, Danying Zheng
Topics & Concepts
Missense mutationEctopia lentisGeneticsNonsense mutationProbandGenotypeMutationPhenotypeExome sequencingBiologyMarfan syndromeMedicineGeneMolecular biologyInternal medicineIntraocular Surgery and LensesConnective tissue disorders researchOcular Disorders and Treatments