Chen Xin-Yao

Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling

Purpose: Phenotypic heterogeneity is a hallmark of Marfan syndrome (MFS) with ectopia lentis (EL), yet genotype-phenotype correlations for ocular traits remain incompletely understood. This study aimed to identify genomic determinants of extreme ocular phenotypes using a combined...