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Article

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Molecular vision - 1 Jan 2017

Sun Zixi, Zhou Qi, Li Huajin, Yang Lizhu, Wu Shijing, Sui Ruifang

Abstract excerpt

Purpose: This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities. Methods: Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the...

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Source

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Identifiers

PMID: 29386872
PMCID: PMC5757854

Genes

CRYGC
CRYAA
CRYBB1
CRYBB2

Provenance

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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