Article
Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.
Molecular vision - 1 Jan 2025
Wang Qiwei, Lin Xiaoshan, Wang Dongni, Qin Tingfeng, Chen Wan, Chen Jingjing, Zhang Xulin, Lin Yongbin, Lin Zhuoling, Li Jing, Li Xiaoyan, Hejtmancik J Fielding, Chen Weirong
Abstract excerpt
Purpose: Hair anomalies represent a common associated symptom of congenital cataracts. Early diagnosis is crucial for treatment and predicting prognosis. However, the insidious and nonspecific nature of the symptoms in young children makes diagnosis challenging, often necessitating tools such as whole-exome sequencing (WES) for accurate assessment. This study aims to propose a simple and expedient approach to...
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