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Article

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.

BMC medical genetics - 8 Oct 2013

Jia Xueyuan, Zhang Feng, Bai Jing, Gao Linghan, Zhang Xuelong, Sun Haiming, Sun Donglin, Guan Rongwei, Sun Wenjing, Xu Lidan, Yue Zhichao, Yu Yang, Fu Songbin

Abstract excerpt

BACKGROUND: Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and new research strategies are needed. In this study, we used linkage-exome combinational analysis to further...

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Identifiers

PMID: 24103489
DOI: 10.1186/1471-2350-14-107
PMCID: PMC3851584

Genes

CRYGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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