Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

ConclusionThe obtained results expanded mutational and phenotype spectrum of β‐crystallin genes and offer clues for pathogenesis of congenital cataracts. The data also demonstrated that targeted exome sequencing is valuable for providing molecular diagnostic information for congenital cataract patients.

Source: Molecular Genetics & Genomic Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Yinhui Yu, Yue Qiao, Yang Ye, Jinyu Li, Ke Yao Tags: ORIGINAL ARTICLE Source Type: research