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Article

A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.

PloS one - 1 Jan 2014

Ding Xuchen, Zhou Nan, Lin Hui, Chen Jianjun, Zhao Chunyuan, Zhou Guangkai, Hejtmancik J Fielding, Qi Yanhua

Abstract excerpt

Congenital cataracts are one of the leading causes of visual impairment and blindness in children, and genetic factors play an important role in their development. This study aimed to identify the genetic defects associated with autosomal dominant congenital progressive punctate cataracts in a Chinese family and to explore the potential pathogenesis. Detailed family history and clinical data were recorded, and...

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Identifiers

PMID: 25033405
DOI: 10.1371/journal.pone.0102733
PMCID: PMC4102541

Genes

MIP

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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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