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Article

Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.

QJM : monthly journal of the Association of Physicians - 1 Nov 2016

Yuan L, Yi J, Lin Q, Xu H, Deng X, Xiong W, Xiao J, Jiang C, Yuan X, Chen Y, Deng H

Abstract excerpt

BACKGROUND: Congenital cataract is a common cause of childhood vision impairment or blindness with genetic and clinical heterogeneity. The aim of this study was to identify the disease-associated gene in a Chinese family with congenital cataract. METHODS: A four-generation Chinese family with three enrolled patients suffering from congenital cataract was studied. Detailed family history and clinical data of all...

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Identifiers

PMID: 27081207
DOI: 10.1093/qjmed/hcw058

Genes

PRX

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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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