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Article

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

BMC medical genetics - 24 Aug 2018

Cao Zongfu, Zhu Yihua, Liu Lijuan, Wu Shuangqing, Liu Bing, Zhuang Jianfu, Tong Yi, Chen Xiaole, Xie Yongqing, Nie Kaimei, Lu Cailing, Ma Xu, Yang Juhua

Abstract excerpt

BACKGROUND: Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort from Chinese families affected with congenital cataracts. METHODS: Forty-two unrelated non-syndromic congenital cataract...

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Source

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Identifiers

PMID: 30143024
DOI: 10.1186/s12881-018-0636-3
PMCID: PMC6109319

Genes

HSF4

Variants

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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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