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Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.

Molecular medicine reports - 1 Jun 2023

Qi Chenyang, He Yunxuan, Jiang Chun, Zhang Xiaoxue, Zhu Peiran, Li Weiwei, Zhou Hongjian, Xue Chunyan, Xia Xinyi

Abstract excerpt

Congenital cataract is the commonest cause of visual impairment and blindness in children worldwide. Among congenital cataract cases, ~25% are caused by genetic defects, while several genetic mutations have been identified in hereditary cataract. In the present study, a patient with cataract underwent clinical ophthalmic examination and pedigree analysis. Whole exome sequencing and Sanger sequencing were...

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Identifiers

PMID: 37165913
DOI: 10.3892/mmr.2023.13008
PMCID: PMC10263388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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