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Article

Clinical features of patients with mutations in genes for nanophthalmos.

The British journal of ophthalmology - 22 Nov 2024

Li Xueqing, Xiao Hui, Su Yihua, Xiao Xueshan, Li Shiqiang, Lin Shufen, Fang Lei, Sun Wenmin, Wang Panfeng, Hejtmancik James Fielding, Yu Minbin, Chen Liming, Zhang Qingjiong, Liu Xing

Abstract excerpt

BACKGROUND/AIMS: To distinguish the clinical feature of nanophthalmos (NNO) caused by mutations in protease serine 56 (PRSS56), membrane-type frizzled-related protein (MFRP), myelin regulatory factor (MYRF) and transmembrane protein 98 (TMEM98) and to evaluate the association between angle-closure glaucoma (ACG) and NNO. METHODS: Variants in those four genes were identified through exome sequencing/whole genome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38749530
DOI: 10.1136/bjo-2023-324931

Genes

MFRP
PRSS56
TMEM98

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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