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Article

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Molecular vision - 27 Dec 2009

Zhang Xiaohui, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Shen Huangxuan, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma. METHODS: Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten genes, including BMP4, VSX2, CRYBA4, GDF6, OTX2, RAX, SIX3, SIX6, SOX2, and LRP6. Variations were further evaluated in...

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Source

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Identifiers

PMID: 20057906
PMCID: PMC2802294

Genes

SIX6
BMP4
CRYBA4
GDF6
LRP6
OTX2
PAX6
RAX
SIX3
SOX2
VSX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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