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Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.

Genes & genomics - 1 Aug 2024

Yang Xinyi, Zhao Zitong, Wang Chun, Wang Wenxuan, Zhang Lu

Abstract excerpt

BACKGROUND: Congenital cataracts, which can arise due to a combination of factors like environmental influences and genetic predisposition, significantly impact children's visual health globally. The occurrence rate of congenital cataracts varies from 0. 63 to 9.74 per 10,000 births. There are 7.4 instances per 10,000 children, with the highest occurrence seen in Asia. Symptoms of the disease include clouding of...

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Cataract
China
Connexins
East Asian People
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

gamma-Crystallins

High-Throughput Nucleotide Sequencing

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PMID: 38869770
DOI: 10.1007/s13258-024-01525-7

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