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Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients.

Gene - 30 Oct 2024

Tao Jing, Luo Jingyi, Li Kaijing, Yang Runcai, Lin Yixiu, Ge Jian

Abstract excerpt

PURPOSE: Microphthalmia is a severe congenital ocular disease featured by abnormal ocular development. The aim of this study was to detail the genetic and clinical characteristics of a large cohort of Chinese patients with microphthalmia related to MFRP variants, focusing on uncovering genotype-phenotype correlations. METHODS: Fifty microphthalmia patients from 44 unrelated Chinese families were recruited....

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PMID: 38848879
DOI: 10.1016/j.gene.2024.148647

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